AARSKOG-SCOTT SYNDROME (Faciogenital Dysplasia)
| FGD1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| FGD1 SEQUENCING ONLY | |
| CPT CODE: | 81406 |
| FGD1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| FGD1 MLPA (DELETION/DUPLICATION) ONLY | |
| CPT CODE: | 81405 |
ACUTE MYELOID (or MYELOGENOUS) LEUKEMIA
| AML PANEL (FLT3 D835 MUTATION & NPM1 EXON 12) | ||
| CPT CODE: | 81245, 81310 | |
| FLT3 D835 MUTATION | ||
| CPT CODE: | 81245 | |
| NPM1 EXON12 SEQUENCING | ||
| CPT CODE: | 81310 | |
ALPHA-THALASSEMIA INTELLECTUAL DISABILITY SYNDROME (Chudley-Lowry Syndrome, XLMR-Hypotonic Facies Syndrome, Smith-Fineman-Myers MR Syndrome)
| ATRX ANALYSIS (SEQUENCING & MLPA) |
||
| CPT CODE: | 81407, 81406 | |
| ATRX SEQUENCING ONLY | ||
| CPT CODE: | 81407 | |
| ATRX SEQUENCING ONLY – KNOWN VARIANT | ||
| CPT CODE: | 81403 | |
| ATRX MLPA ONLY |
||
| CPT CODE: | 81406 | |
ANEURYSM OSTEOARTHRITIS SYNDROME
| SSMAD3 ANALYSIS (SEQUENCING & MLPA) |
|
| CPT CODE: | 81405, 81404 |
| SMAD3 SEQUENCING ONLY | |
| CPT CODE: | 81405 |
| SMAD3 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SMAD3 MLPA ONLY | |
| CPT CODE: | 81404 |
ANGELMAN SYNDROME
| UBE3A (METHYLATION) MLPA | |
| CPT CODE: | 81331 |
| UBE3A SEQUENCING | |
| CPT CODE: | 81406 |
| UBE3A SEQUENCING – KNOWN VARIANT | |
| CPT CODE: | 81403 |
ANGELMAN-LIKE SYNDROME (X-linked syndromic MR- Christianson type)
| SLC9A6 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| SLC9A6 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
AORTIC VALVE DISEASE
| NOTCH1 SEQUENCING ONLY |
|
| CPT CODE: | 81407 |
| NOTCH1 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
ARX
| ARX ANALYSIS (SEQUENCING & MLPA) |
|
| CPT CODE: | 81404, 81405 |
| ARX SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| ARX SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| ARX MLPA ONLY |
|
| CPT CODE: | 81405 |
ASHKENAZI JEWISH PANEL
| COMPLETE PANEL (18 GENES) |
|
| CPT CODES: | 81209; 81200; 81401; 81260; 81242; 81251; 81250;81290; 81205; 81330; 81255; 81403; 81479; 81479; 81400; 81403; 81403; 81403 |
| BLOOM SYNDROME |
|
| CPT CODE: | 81209 |
| CANAVAN DISEASE |
|
| CPT CODE: | 81200 |
| FACTOR XI DEFICIENCY |
|
| CPT CODE: | 81401 |
| FAMILIAL DYSAUTONOMIA |
|
| CPT CODE: | 81260 |
| FANCONI ANEMIA TYPE C |
|
| CPT CODE: | 81242 |
| GAUCHER DISEASE |
|
| CPT CODE: | 81251 |
| GLYCOGEN STORAGE DISEASE TYPE 1A |
|
| CPT CODE: | 81250 |
| MUCOLIPIDOSIS TYPE IV |
|
| CPT CODE: | 81290 |
| MAPLE SYRUP URINE DISEASE TYPE 1A |
|
| CPT CODE: | 81205 |
| NIEMANN-PICK DISEASE TYPE A |
|
| CPT CODE: | 81330 |
| TAY-SACHS DISEASE |
|
| CPT CODE: | 81255 |
| WALKER-WARBURG SYNDROME |
|
| CPT CODE: | 81402 |
| NEMALINE MYOPATHY |
|
| CPT CODE: | 81400 |
| USHER SYNDROME TYPE 1F |
|
| CPT CODE: | 81401 |
| USHER SYNDROME TYPE 3A |
|
| CPT CODE: | 81401 |
| LIPOAMIDE DEHYDROGENASE DEFICIENCY |
|
| CPT CODE: | 81479 |
| JOUBERT DISEASE |
|
| CPT CODE: | 81401 |
| FAMILIAL HYPERINSULINEMIA |
|
| CPT CODE: | 81401 |
| CYSTIC FIBROSIS (40 MUTATIONS) – NOT INCLUDED IN PANEL PRICE |
|
| CPT CODE: | 81220 |
ATAXIA PANEL
| SPINOCEREBELLAR ATAXIA TYPE 1, 2, 3, 6, 7, 8, 10, 12, or 17 |
|
| CPT CODE: | 81401 |
| SPINOCEREBELLAR ATAXIA TYPE LADDER ASSAY | |
| CPT CODE: | 81401 |
| DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) | |
| CPT CODE: | 81401 |
AUTISM/AUTISM SPECTRUM DISORDER (ASD, 53 gene panel)
| AUTISM/AUTISM SPECTRUM DISORDER (53 gene panel) | |
| CPT CODE: | 81479 |
AUTISM WITH MACROCEPHALY
| PTEN ANALYSIS (SEQUENCING & MLPA) AND PROMOTER | |
| CPT CODE: | 81321, 81323, 81403 |
| PTEN SEQUENCING ONLY |
|
| CPT CODE: | 81321 |
| PTEN SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81322 |
| PTEN (PTEN PROMOTER TEST) REFLEX | |
| CPT CODE: | 81403 |
| PTEN MLPA ONLY | |
| CPT CODE: | 81323 |
AUTISM/INTELLECTUAL DISABILITY/SEIZURES
| ARX ANALYSIS (SEQUENCING & MLPA) |
|
| CPT CODE: | 81404, 81405 |
| ARX SEQUENCING ONLY | |
| CPT CODE: | 81404 |
| ARX SEQUENCING – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| ARX MLPA ONLY |
|
| CPT CODE: | 81405 |
| SCN1A ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81407, 81406 |
| SCN1A SEQUENCING ONLY |
|
| CPT CODE: | 81407 |
| SCN1A SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SCN1A MLPA ONLY |
|
| CPT CODE: | 81406 |
| CDKL5/STK9 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| CDKL5/STK9 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| CDKL5/STK9 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| CDKL5/STK9 MLPA ONLY |
|
| CPT CODE: | 81405 |
BCR/ABL (Philadelphia Chromosome)
| BCR/ABL (PHILADELPHIA CHROMOSOME) | |
| CPT CODE: | 81206 |
| BCR/ABL DIAGNOSTIC(p190; p210;PHILADELPHIA CHROMOSOME) | |
| CPT CODE: | 81206 |
| BCR/ABL MONITORING RESIDUAL LEVELS (p190 ISOFORM ONLY) | |
| CPT CODE: | 81206 |
| BCR/ABL MONITORING RESIDUAL LEVELS (p210 ISOFORM ONLY) | |
| CPT CODE: | 81206 |
BLOOM SYNDROME
| BLOOM SYNDROME | |
| CPT CODE: | 81209 |
BRANCHIO-OCULO-FACIAL SYNDROME
| TFAP2A ANALYSIS (SEQUENCING & MLPA) | ||||
| CPT CODE: | 81405, 81404 | |||
| TFAP2A SEQUENCING ONLY |
||||
| CPT CODE: | 81405 | |||
| TFAP2A SEQUENCING ONLY – KNOWN VARIANT | ||||
| CPT CODE: | 81403 | |||
| TFAP2A MLPA ONLY | ||||
| CPT CODE: | 81404 | |||
BREAST CANCER
| BRCA1 AND BRCA2 ASHKENAZI JEWISH MUTATIONS | |
| CPT CODE: | 81212 |
| BRCA1 ASHKENAZI JEWISH MUTATIONS ONLY | |
| CPT CODE: | 81212 |
| BRCA2 ASHKENAZI JEWISH MUTATION ONLY | |
| CPT CODE: | 81212 |
C9orf72-RELATED NEURODEGENERATIVE DISEASE
| C9orf72-RELATED NEURODEGENERATIVE DISEASE | |
| CPT CODE: | 81401 |
CADASIL
| NOTCH3 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| NOTCH3 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
CANAVAN DISEASE
| CANAVAN DISEASE (3 MUTATIONS) | |
| CPT CODE: | 81200 |
CARDIOFACIOCUTANEOUS SYNDROME
| CARDIOFACIOCUTANEOUS SYNDROME PANEL | |
| CPT CODE: | 81406, 81406, 81406, 81405 |
| BRAF – SEQUENCING | |
| CPT CODE: | 81406 |
| BRAF SEQUENCING – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| MAP2K1 – SEQUENCING | |
| CPT CODE: | 81406 |
| MAP2K1 SEQUENCING – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| MAP2K2 – SEQUENCING | |
| CPT CODE: | 81406 |
| MAP2K2 SEQUENCING – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| KRAS – SEQUENCING | |
| CPT CODE: | 81405 |
| KRAS SEQUENCING – KNOWN VARIANT | |
| CPT CODE: | 81403 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A/HNPP
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A/HNPP | |
| CPT CODE: | 81324 |
CHARCOT-MARIE-TOOTH DISEASE, TYPES 1B, 2I, 2J
| MPZ SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| MPZ SEQUENCING ONLY– KNOWN VARIANT | |
| CPT CODE: | 81403 |
| MPZ MLPA ONLY |
|
| CPT CODE: | 81324 |
CHARGE SYNDROME
| CHD7 ANALYSIS (SEQUENCING & MLPA) | ||||
| CPT CODE: | 81407, 81406 | |||
| CHD7 SEQUENCING ONLY | ||||
| CPT CODE: | 81407 | |||
| CHD7 SEQUENCING ONLY – KNOWN VARIANT | ||||
| CPT CODE: | 81403 | |||
| CHD7 MLPA ONLY |
||||
| CPT CODE: | 81406 | |||
COFFIN LOWRY SYNDROME
| RSK2/RPS6KA3 ANALYSIS (SEQUENCING & MLPA) | ||||
| CPT CODE: | 81406, 81405 | |||
| RSK2/RPS6KA3 SEQUENCING ONLY | ||||
| CPT CODE: | 81406 | |||
| RSK2/RPS6KA3 SEQUENCING ONLY – KNOWN VARIANT | ||||
| CPT CODE: | 81403 | |||
| RSK2/RPS6KA3 MLPA ONLY | ||||
| CPT CODE: | 81405 | |||
CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS (CBAVD)
| CF100/CFTR PANEL | |
| CPT CODE: | 81222, 81223, 81220 |
| CF100 | |
| CPT CODE: | 81220 |
| CYSTIC FIBROSIS (CFTR TG TRACT ANALYSIS ONLY) | |
| CPT CODE: | 81403 |
| CFTR ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81222, 81223 |
| CFTR SEQUENCING ONLY | |
| CPT CODE: | 81223 |
| CFTR SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81221 |
| CFTR MLPA ONLY |
|
| CPT CODE: | 81222 |
| CYSTIC FIBROSIS 5T | |
| CPT CODE: | 81224 (unless R117H) |
CONGENITAL CONTRACTURAL ARACHNODACTYLY (Beals syndrome)
| FBN2 SEQUENCING ONLY |
|
| CPT CODE: | 81408 |
| FBN2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1A
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1A (COMMON MUTATIONS) | |
| CPT CODE: | 81250 |
CONNECT1: CONNECTIVE TISSUE DISORDERS DNA SEQUENCING CHIP
| CONNECT1: CONNECTIVE TISSUE DISORDERS DNA SEQUENCING CHIP | |
| CPT CODE: | 81479 |
CONNEXIN 30 (NON-SYNDROMIC DEAFNESS) DELETION ASSAY
| CONNEXIN-30 MUTATION | |
| CPT CODE: | 81254 |
| CONNEXIN-26 SEQUENCING |
|
| CPT CODE: | 81252 |
| CONNEXIN-26 SEQUENCING – KNOWN VARIANT |
|
| CPT CODE: | 81253 |
| MITOCHONDRIAL A1555G |
|
| CPT CODE: | 81401 |
COSTELLO SYNDROME
| COSTELLO PANEL (ALL 3 GENES) | |
| CPT CODE: | 81406, 81404, 81405 |
| BRAF SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| BRAF SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| HRAS SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| HRAS SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE:</td | |
| KRAS SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| KRAS SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81405 |
CTRC-RELATED HEREDITARY PANCREATITIS
| PANCREATITIS PANEL | |
| CPT CODE: | 81405, 81404, 81404, 81404 |
| SPRINK1/PRSS1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81404, 81404, 81404 |
| SPINK1 SEQUENCING ONLY | |
| CPT CODE: | 81404 |
| SPINK1 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| PRSS1 SEQUENCING ONLY | |
| CPT CODE: | 81404 |
| PRSS1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SPINK1/PRSS1 MLPA ONLY |
|
| CPT CODE: | 81404 |
| CTRC SEQUENCING ONLY | |
| CPT CODE: | 81405 |
| CTRC SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
CYSTIC FIBROSIS
| CF100 & CFTR PANEL | |
| CPT CODE: | 81222, 81223, 81220 |
| CFTR ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81222, 81223 |
| CFTR SEQUENCING ONLY | |
| CPT CODE: | 81223 |
| CFTR SEQUENCING – KNOWN VARIANT | |
| CPT CODE: | 81221 |
| CFTR MLPA ONLY | |
| CPT CODE: | 81222 |
| CYSTIC FIBROSIS (CFTR TG TRACT ANALYSIS ONLY) | |
| CPT CODE: | 81403 |
| CYSTIC FIBROSIS (40 MUTATIONS) | |
| CPT CODE: | 81220 |
| CYSTIC FIBROSIS 100 PLUS (100-116 MUTATIONS) | |
| CPT CODE: | 81220 |
| CYSTIC FIBROSIS 5T | |
| CPT CODE: | 81224 (unless R117H) |
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA)
| DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA) | |
| CPT CODE: | 81401 |
DUCHENNE or BECKER MUSCULAR DYSTROPHY (DMD/BMD)
| DUCHENNE or BECKER MUSCULAR DYSTROPHY (DMD/BMD) | |
| CPT CODE: | 81161 |
FOXP1
| FOXP1 SEQUENCING ONLY |
|
| CPT CODE: | 81479 |
| FOXP1 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| FOXP2 SEQUENCING ONLY |
|
| CPT CODE: | 81479 |
| FOXP2 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
FOXP2
| FOXP2 SEQUENCING ONLY |
|
| CPT CODE: | 81479 |
| FOXP2 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
EHLERS-DANLOS SYNDROME TYPE I & II (CLASSIC & MILD)
| COMPREHENSIVE EDS TYPE I/II (COL5A1/COL5A2 SEQUENCING, COL5A1 MLPA) |
|
| CPT CODE: | 81408, 81407, 81408 |
| COL5A1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81408, 81407 |
| COL5A1 SEQUENCING ONLY |
|
| CPT CODE: | 81408 |
| COL5A1 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| COL5A1 MLPA ONLY |
|
| CPT CODE: | 81407 |
| COL5A2 SEQUENCING ONLY |
|
| CPT CODE: | 81408 |
| COL5A2 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
EHLERS-DANLOS SYNDROME TYPE IV (VASCULAR TYPE)
| COL3A1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81408, 81404 |
| COL3A1 SEQUENCING ONLY | |
| CPT CODE: | 81408 |
| COL3A1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| COL3A1 MLPA ONLY | |
| CPT CODE: | 81404 |
EHLERS-DANLOS SYNDROME TYPE VII A&B (ARTHROCHALASIA TYPE)
| COL1A1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81408, 81407 |
| COL1A1 SEQUENCING ONLY | |
| CPT CODE: | 81408 |
| COL1A1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| COL1A1 MLPA ONLY | |
| CPT CODE: | 81407 |
| COL1A2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81408, 81407 |
| COL1A2 SEQUENCING ONLY | |
| CPT CODE: | 81408 |
| COL1A2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| COL1A2 MLPA ONLY | |
| CPT CODE: | 81407 |
EHLERS-DANLOS VARIANT WITH PERIVENTRICULAR HETEROTOPIA
| FLNA ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81407, 81405 |
| FLNA SEQUENCING ONLY | |
| CPT CODE: | 81407 |
| FLNA SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| FLNA MLPA ONLY | |
| CPT CODE: | 81405 |
EPILEPSY AND INTELLECTUAL DISABILITY (FEMALE-RESTRICTED)
| PCDH19 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81404 |
| PCDH19 SEQUENCING ONLY | |
| CPT CODE: | 81406 |
| PCDH19 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| PCDH19 MLPA ONLY | |
| CPT CODE: | 81404 |
FACTOR V LEIDEN
| Factor V Leiden | ||
| CPT CODE: | 81241 | |
| Panel of Factor V Leiden and Prothrombin | ||
| CPT CODE: | 81241, 81240 | |
| Panel of Factor V Leiden, Prothrombin and MTHFR |
||
| CPT CODE: | 81241, 81240, 81291 | |
FACTOR XI DEFICIENCY (Hemophilia C, Plasma Thromboplastin Antecedent Deficiency, Rosenthal Syndrome)
| FACTOR XI DEFICIENCY | |
| CPT CODE: | 81401 |
FAMILIAL ADENOMATOUS POLYPOSIS
| APC ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81201, 81203 |
| APC SEQUENCING ONLY | |
| CPT CODE: | 81201 |
| APC SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81202 |
| APC MLPA ONLY | |
| CPT CODE: | 81203 |
FAMILIAL DYSAUTONOMIA
| FAMILIAL DYSAUTONOMIA (2 MUTATIONS) | |
| CPT CODE: | 81260 |
FAMILIAL HYPERINSULINEMIA
| FAMILIAL HYPERINSULINEMIA | |
| CPT CODE: | 81401 |
FAMILIAL MEDITERRANEAN FEVER
| COMMON MUTATIONS & MEFV ANALYSIS (SEQUENCING & MLPA) PANEL | |
| CPT CODE: | 81402, 81405, 81404 |
| MEFV – FIVE COMMON MUTATIONS ONLY |
|
| CPT CODE: | 81402 |
| MEFV ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81404, 81405 |
| MEFV SEQUENCING ONLY | |
| CPT CODE: | 81405 |
| MEFV – SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 (seq 1 mut); 81402 (common known mut) |
| MEFV MLPA ONLY | |
| CPT CODE: | 81404 |
FANCONI ANEMIA, TYPE C
| FANCONI ANEMIA TYPE C | |
| CPT CODE: | 81242 |
FGF10-RELATED DISORDERS (Lacrimo-Auriculo-Dento-Digital (Levy Hollister); Aplasia of the Lacrimal and Salivary Glands))
| LADD PANEL (FGF10, FGFR2, & FGFR3 ANALYSIS) | |
| CPT CODE: | 81404, 81405, 81403, 81405 |
| FGF10 AND SELECTED EXONS OF FGFR2 AND FGFR3 – SEQUENCING ONLY |
|
| CPT CODE: | 81404, 81405, 81403 |
| FGF10 AND SELECTED EXONS OF FGFR2 – MLPA ONLY |
|
| CPT CODE: | 81405 |
| FGF10 SEQUENCING ONLY | |
| CPT CODE: | 81404 |
| SEQUENCING – KNOWN VARIANT (FGF10 OR SELECTED EXONS OF FGFR2 OR FGFR3) |
|
| CPT CODE: | 81403 |
| SEQUENCING ONLY – REFLEX FGFR2, FGFR3 |
|
| CPT CODE: | 81405, 81403 |
FRAGILE X SYNDROME
| FRAGILE X BY PCR | |
| CPT CODE: | 81243 |
| FRAGILE X WITH CGG REPEAT PRIMED PCR (WHEN REQUIRED) | |
| CPT CODE: | 81244 (in addition to 1st) |
| FRAGILE X BY PCR WITH SNP MICROARRAY | |
| CPT CODE: | 81243, 81229 |
GAUCHER DISEASE
| GAUCHER DISEASE | |
| CPT CODE: | 81251 |
GLYCOGEN STORAGE DISEASE TYPE 1A (von Gierke Disease)
| GLYCOGEN STORAGE DISEASE 1A (VON GIERKE DISEASE) | |
| CPT CODE: | 81251 |
HEREDITARY HEMOCHROMATOSIS
| HEREDITARY HEMOCHROMATOSIS (3 MUTATIONS) | |
| CPT CODE: | 81256 |
| HEREDITARY HEMOCHROMATOSIS (KNOWN MUTATION) | |
| CPT CODE: | 81400 |
HUNTINGTON DISEASE
| HUNTINGTON DISEASE | |
| CPT CODE: | 81401 |
| HUNTINGTON DISEASE XL-PCR (WHEN REQUIRED) | |
| CPT CODE: | 81401 (in addition to first) |
INFANTILE SPASMS
| ARX ANALYSIS (SEQUENCING& MLPA) |
|
| CPT CODE: | 81404, 81405 |
| ARX SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| ARX SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| ARX MLPA ONLY |
|
| CPT CODE: | 81405 |
| SCN1A ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81407, 81406 |
| SCN1A SEQUENCING ONLY |
|
| CPT CODE: | 81407 |
| SCN1A SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SCN1A MLPA ONLY |
|
| CPT CODE: | 81406 |
| CDKL5/STK9 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| CDKL5/STK9 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| CDKL5/STK9 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| CDKL5/STK9 MLPA ONLY |
|
| CPT CODE: | 81405 |
INFERTILITY TESTING (AZOOSPERMIA DUE TO SPERMATOGENESIS ARREST, INFERTILITY, SUSCEPTIBILITY TO RECURRENT PREGNANCY LOSS)
| SYCP3 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| SYCP3 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
INTELLECTUAL DISABILITY (DOMINANT, NONSYNDROMIC)
| SYNGAP1 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| SYNGAP1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
INTRACRANIAL ANEURYSM
| NTM SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| NTM SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| TGFBR3 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| TGFBR3 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
JAK2
| JAK2 V617F/EXON12 REFLEX PANEL | |
| CPT CODE: | 81270, 81403 |
| JAK2 V617F MUTATION | |
| CPT CODE: | 81270 |
| JAK2 EXON12 SEQUENCING REFLEX | |
| CPT CODE: | 81403 |
JOUBERT DISEASE
| JOUBERT DISEASE | |
| CPT CODE: | 81401 |
KABUKI SYNDROME (KMT2D/MLL2)
| KMT2D/MLL2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81408, 81406 |
| KMT2D/MLL2 SEQUENCING ONLY | |
| CPT CODE: | 81408 |
| KMT2D/MLL2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| KMT2D/MLL2 MLPA ONLY | |
| CPT CODE: | 81406 |
| COMPREHENSIVE KABUKI SYNDROME ANALYSIS (KDM6A SEQUENCING/MLPA & KMT2D/MLL2 SEQUENCING/MLPA) |
|
| CPT CODE: | 81407, 81406, 81408, 81406 |
KABUKI SYNDROME (KDM6A)
| KDM6A ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81407, 81406 |
| KDM6A SEQUENCING ONLY | |
| CPT CODE: | 81407 |
| KDM6A SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| KDM6A MLPA ONLY | |
| CPT CODE: | 81406 |
| COMPREHENSIVE KABUKI SYNDROME ANALYSIS (KDM6A SEQUENCING/MLPA & KMT2D/MLL2 SEQUENCING/MLPA) |
|
| CPT CODE: | 81407, 81406, 81408, 81406 |
KENNEDY DISEASE (Spinal Bulbar Muscular Atrophy, SBMA)
| KENNEDY DISEASE | |
| CPT CODE: | 81401 |
LEOPARD SYNDROME
| LEOPARD SYNDROME PANEL |
|
| CPT CODE: | 81406, 81406, 81406 |
| PTPN11 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| PTPN11 SEQUENCING – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| RAF1 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| RAF1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| BRAF SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| BRAF SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
LIPOAMIDE DEHYDROGENASE DEFICIENCY
| LIPOAMIDE DEHYDROGENASE DEFICIENCY | |
| CPT CODE: | 81479 |
LOEYS-DIETZ SYNDROME
| LDS1 AND 2: TGFβR1/TGFβR2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODES: | 81479, 81479, 81479 |
| LDS1 AND 2: TGFβR1/TGFβR2 SEQUENCING ONLY |
|
| CPT CODE: | 81479, 81479 |
| LDS1 AND 2: TGFβR1/TGFβR2 MLPA ONLY |
|
| CPT CODE: | 81479 |
| LDS1: TGFβR1 SEQUENCING ONLY |
|
| CPT CODE: | 81479 |
| LDS1: TGFβR1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| LDS2: TGFβR2 SEQUENCING ONLY | |
| CPT CODE: | 81479 |
| LDS2: TGFβR2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| LDS3: SMAD3 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODES: | 81479, 81479 |
| LDS3: SMAD3 SEQUENCING ONLY | |
| CPT CODE: | 81479 |
| LDS3: SMAD3 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| LDS3: SMAD3 MLPA ONLY | |
| CPT CODE: | 81479 |
| LDS4: TGFβ2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81479, 81479 |
| LDS4: TGFβ2 SEQUENCING ONLY | |
| CPT CODE: | 81479 |
| LDS4: TGFβ2 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| LDS4: TGFβ2 MLPA ONLY | |
| CPT CODE: | 81479 |
| LDS5: TGFβ3 SEQUENCING ONLY | |
| CPT CODE: | 81479 |
| LDS5: TGFβ3 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81479 |
LYNCH SYNDROME/HEREDITARY NON-POLYPOSIS COLORECTAL CANCER (HNPCC)
| HNPCC PANEL | |||||||
| CPT CODE: | 81295, 81297, 81298, 81300, 81292, 81317, 81319 | ||||||
| MLH1 ANALYSIS (SEQUENCING & MLPA) | |||||||
| CPT CODE: | 81292, 81297 | ||||||
| MLH1 SEQUENCING ONLY | |||||||
| CPT CODE: | 81292 | ||||||
| MLH1 SEQUENCING ONLY – KNOWN VARIANT | |||||||
| CPT CODE: | 81293 | ||||||
| MLH1 MLPA ONLY | |||||||
| CPT CODE: | 81297 | ||||||
| MSH2 ANALYSIS (SEQUENCING & MLPA) | |||||||
| CPT CODE: | 81295, 81297 | ||||||
| MSH2 SEQUENCING ONLY | |||||||
| CPT CODE: | 81295 | ||||||
| MSH2 SEQUENCING ONLY – KNOWN VARIANT | |||||||
| CPT CODE: | 81296 | ||||||
| MSH2 MLPA ONLY | |||||||
| CPT CODE: | 81297 | ||||||
| MSH6 ANALYSIS (SEQUENCING & MLPA) | |||||||
| CPT CODE: | 81298, 81300 | ||||||
| MSH6 SEQUENCING ONLY | |||||||
| CPT CODE: | 81298 | ||||||
| MSH6 SEQUENCING ONLY – KNOWN VARIANT | |||||||
| CPT CODE: | 81298 | ||||||
| MSH6 MLPA ONLY | |||||||
| CPT CODE: | 81300 | ||||||
| PMS2 ANALYSIS (SEQUENCING & MLPA) | |||||||
| CPT CODE: | 81317, 81319 | ||||||
| PMS2 SEQUENCING ONLY | |||||||
| CPT CODE: | 81317 | ||||||
| PMS2 SEQUENCING ONLY – KNOWN VARIANT |
|||||||
| CPT CODE: | 81318 | ||||||
| PMS2 MLPA ONLY | |||||||
| CPT CODE: | 81319 | ||||||
MAPLE SYRUP URINE DISEASE TYPE 1B (E1b subunit gene, MSUD type 1B)
| MAPLE SYRUP URINE DISEASE TYPE 1B (BCKDHB) | |
| CPT CODE: | 81205 |
MARFAN SYNDROME
| FBN1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81408, 81407 |
| FBN1 SEQUENCING ONLY |
|
| CPT CODE: | 81408 |
| FBN1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| FBN1 MLPA ONLY |
|
| CPT CODE: | 81407 |
MATERNAL CELL CONTAMINATION STUDIES
| MATERNAL CELL CONTAMINATION STUDIES (MOTHER & FETUS) | |
| CPT CODE: | 81265 |
MED12 RELATED DISORDERS (FG syndrome type 1 (Opitz-Kaveggia); Lujan-Fryns (X-linked MR with Marfanoid habitus), X-linked Ohdo syndrome)
| MED12 SEQUENCING ONLY |
|
| CPT CODE: | 81407 |
| MED12 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD)
| MCAD – 1 MUTATION | |
| CPT CODE: | 81401 |
MELANOMA (FAMILIAL MALIGNANT) (Dysplastic nevus syndrome)
| CDKN2A ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81404, 81404 |
| CDKN2A SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| CDKN2A SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| CDKN2A MLPA ONLY |
|
| CPT CODE: | 81404 |
METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR)
| MTHFR | |
| CPT CODE: | 81291 |
MITOCHONDRIAL DISORDERS
| MITOCHONDRIAL GENOME SEQUENCING | |
| CPT CODE: | 81407 |
| MITOCHONDRIAL 9 MUTATION PANEL | |
| CPT CODE: | 81402 |
| NEUROPATHY WITH ATAXIA & RETINITIS PIGMENTOSA (NARP)/LEIGH SYNDROME (2 MUTATIONS) | |
| CPT CODE: | 81401, 81401 |
| MYOCLONIC EPILEPSY WITH RAGGED-RED FIBERS (MERRF) (2 MUTATIONS) | |
| CPT CODE: | 81401, 81401 |
| MITOCHONDRIAL ENCEPHALOPATHY WITH LACTIC ACIDOSIS & STROKE-LIKE EPISODES (MELAS) (2 MUTATIONS) | |
| CPT CODE: | 81401, 81401 |
| CPEO/KSS (1 MUTATION) | |
| CPT CODE: | 81401 |
| LHON (1 MUTATION) | |
| CPT CODE: | 81401 |
| MELAS (1 MUTATION) | |
| CPT CODE: | 81401 |
| MERRF (1 MUTATION) | |
| CPT CODE: | 81401 |
| NARP (1 MUTATION) | |
| CPT CODE: | 81401 |
MOWAT-WILSON SYNDROME
| ZEB2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81405, 81404 |
| ZEB2 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| ZEB2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| ZEB2 MLPA ONLY |
|
| CPT CODE: | 81404 |
MUCOLIPIDOSIS TYPE IV
| MUCOLIPIDOSIS TYPE IV (MCOLN1) | |
| CPT CODE: | 81290 |
MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 (MEN1) SYNDROME
| MEN1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81405, 81404 |
| MEN1 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| MEN1 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| MEN1 MLPA ONLY |
|
| CPT CODE: | 81404 |
MULTIPLE ENDOCRINE NEOPLASIA TYPE 2 (MEN2) SYNDROME
| MEN2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| MEN2 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| MEN2 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| MEN2 MLPA ONLY |
|
| CPT CODE: | 81405 |
MYELOPROLIFERATIVE DISEASE
| JAK2 V617F/JAK2 EXON 12 SEQUENCING/CALR SEQUENCING/MPL SEQUENCING REFLEX PANEL | |
| CPT CODE: | 81270, 81403, 81403, 81406 |
| JAK2 V617F MUTATION | |
| CPT CODE: | 81270 |
| JAK2 EXON 12 SEQUENCING REFLEX |
|
| CPT CODE: | 81403 |
| CALR SEQUENCING REFLEX |
|
| CPT CODE: | 81403 |
| MPL SEQUENCING REFLEX |
|
| CPT CODE: | 81406 |
MYH-ASSOCIATED POLYPOSIS (MAP)
| MUTYH ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| MUTYH SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| MUTYH SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 (each) |
| MUTYH MLPA ONLY |
|
| CPT CODE: | 81405 |
NEMALINE MYOPATHY
| NEMALINE MYOPATHY | |
| CPT CODE: | 81400 |
NEUREXIN 1 (NRXN1)
| NRXN1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81407, 81406 |
| NRXN1 SEQUENCING ONLY |
|
| CPT CODE: | 81407 |
| NRXN1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| NRXN1 MLPA ONLY |
|
| CPT CODE: | 81406 |
NEUROFIBROMATOSIS 1
| NF1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81408, 81407 |
| NF1 SEQUENCING ONLY |
|
| CPT CODE: | 81408 |
| NF1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| NF1 MLPA ONLY |
|
| CPT CODE: | 81407 |
NEUROFIBROMATOSIS TYPE 1-LIKE SYNDROME (NFLS)
| ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81405, 81404 |
| SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| MLPA ONLY |
|
| CPT CODE: | 81404 |
NEUROFIBROMATOSIS 2
| NF2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| NF2 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| NF2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| NF2 MLPA ONLY |
|
| CPT CODE: | 81405 |
NEUROLIGIN (X-LINKED INTELLECTUAL DISABILITY/AUTISM/ASPERGER SYNDROME)
| NLGN3 & NLGN4 SEQUENCING | |
| CPT CODE: | 81405, 81404 |
| NLGN3 SEQUENCING | |
| CPT CODE: | 81405 |
| NLGN3 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| NLGN4 SEQUENCING | |
| CPT CODE: | 81404 |
| NLGN4 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| NLGN3 & NLGN4 SEQUENCING – KNOWN VARIANT |
|
| CPT CODE: | 81403, 81403 |
NIEMANN PICK DISEASE, TYPE A
| NIEMANN-PICK DISEASE TYPE A (3 MUTATIONS) | |
| CPT CODE: | 81330 |
NOONAN SYNDROME
| 11-GENE PANEL FOR PTPN11;SOS1;KRAS;SHOC2;NRAS; RAF1; BRAF, CBL, SOS2; RIT1; AND LZTR1 | |
| CPT CODE: | 81406, 81406, 81405, 81400, 81404, 81406, 81479, 81479, 81479, 81405, 81479 |
| 6-GENE PANEL FOR PTPN11;SOS1;KRAS;SHOC2;NRAS; RAF1 | |
| CPT CODE: | 81406, 81406, 81405, 81400, 81404, 81406 |
| 4-GENE PANEL FOR PTPN11;SOS1;KRAS; SHOC2 | |
| CPT CODE: | 81406, 81406, 81405, 81400 |
| PTPN11 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| PTPN11 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SOS1 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| SOS1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| KRAS SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| KRAS SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| NRAS SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| NRAS SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| RAF1 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| RAF1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| BRAF SEQUENCING ONLY | |
| CPT CODE: | 81406 |
| BRAF SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| CBL SEQUENCING ONLY | |
| CPT CODE: | 81479 |
| CBL SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SOS2 SEQUENCING ONLY | |
| CPT CODE: | 81479 |
| SOS2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| RIT1 SEQUENCING ONLY | |
| CPT CODE: | 81479 |
| RIT1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| LZTR1 SEQUENCING ONLY | |
| CPT CODE: | 81479 |
| LZTR1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SHOC2 | |
| CPT CODE: | 81400 |
OPITZ G/BBB SYNDROME (X-LINKED)
| MID1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81405, 81405 |
| MID1 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| MID1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| MID1 MLPA ONLY |
|
| CPT CODE: | 81405 |
OSTEOGENESIS IMPERFECTA TYPE I, II, III, IV
| COL1A1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81408, 81407 |
| COL1A1 SEQUENCING ONLY | |
| CPT CODE: | 81408 |
| COL1A1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| COL1A1 MLPA ONLY | |
| CPT CODE: | 81407 |
| COL1A2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81408, 81407 |
| COL1A2 SEQUENCING ONLY | |
| CPT CODE: | 81408 |
| COL1A2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| COL1A2 MLPA ONLY | |
| CPT CODE: | 81407 |
PARAGANGLIOMA-PHEOCHROMOCYTOMA SYNDROMES
| SDHB;SDHC;SDHD ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81405, 81405, 81404, 81405 |
| SDHB SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| SDHB SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SDHC SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| SDHC SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SDHD SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| SDHD SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SDHB;SDHC;SDHD MLPA | |
| CPT CODE: | 81405 |
PELIZAEUS-MERZBACHER DISEASE/ SPASTIC PARAPLEGIA 2
| PLP1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81405, 81404 |
| PLP1 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| PLP1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| PLP1 MLPA ONLY |
|
| CPT CODE: | 81404 |
PENDRED SYNDROME
| SLC26A4 SEQUENCING – 5 COMMON MUTATIONS | |
| CPT CODE: | 81402 |
| SLC26A4 SEQUENCING | |
| CPT CODE: | 81406 |
| SLC26A4 SEQUENCING – KNOWN MUTATION | |
| CPT CODE: | 81403 |
PHENYLKETONURIA (PKU)
| PAH ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| PAH SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| PAH SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| PAH MLPA ONLY |
|
| CPT CODE: | 81405 |
PITT-HOPKINS SYNDROME
| TCF4 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| TCF4 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| TCF4 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| TCF4 MLPA ONLY |
|
| CPT CODE: | 81405 |
PITT HOPKINS-LIKE SYNDROME
| CNTNAP2 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| CNTNAP2 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
PRADER-WILLI SYNDROME
| PRADER-WILLI SYNDROME (METHYLATION) MLPA | |
| CPT CODE: | 81331 |
PROTHROMBIN
| PROTHROMBIN GENE MUTATION (20210G>A) | |
| CPT CODE: | 81240 |
| Panel of Factor V Leiden and Prothrombin | |
| CPT CODE: | 81241, 81240 |
| Panel of Factor V Leiden, MTHFR, and Prothrombin | |
| CPT CODE: | 81241, 81291, 81240 |
PRSS1-RELATED HEREDITARY PANCREATITIS
| PANCREATITIS PANEL -CTRC,PRSS1,SPINK1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81405, 81404, 81404, 81404 |
| PRSS1 SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| PRSS1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| PRSS1 MLPA ONLY |
|
| CPT CODE: | 81404 |
X-LINKED INTELLECTUAL DISABILITY/ AUTISM SPECTRUM DISORDER
| PTCHD1 ANALYSIS (SEQUENCING & MLPA) | ||
| CPT CODE: | 81404, 81403 | |
| PTCHD1 SEQUENCING ONLY |
||
| CPT CODE: | 81404 | |
| PTCHD1SEQUENCING ONLY – KNOWN VARIANT | ||
| CPT CODE: | 81403 | |
| PTCHD1 MLPA ONLY |
||
| CPT CODE: | 81403 | |
PTEN-HAMARTOMA TUMOR SYNDROME (Cowden, Bannayan-Riley-Ruvalcaba, Proteus/Proteus-Like; Autism with macrocephaly)
| PTEN ANALYSIS (SEQUENCING & MLPA) AND PROMOTER | |
| CPT CODE: | 81321, 81323, 81403 |
| PTEN SEQUENCING ONLY |
|
| CPT CODE: | 81321 |
| PTEN SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81322 |
| PTEN (PTEN PROMOTER TEST) REFLEX | |
| CPT CODE: | 81403 |
| PTEN MLPA ONLY | |
| CPT CODE: | 81323 |
RETT SYNDROME
| MECP2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81302, 81304 |
| MECP2 SEQUENCING ONLY | |
| CPT CODE: | 81302 |
| MECP2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81303 |
| MECP2 MLPA ONLY |
|
| CPT CODE: | 81304 |
RETT SYNDROME – ATYPICAL
| CDKL5/STK9 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| CDKL5/STK9 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| CDKL5/STK9 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| CDKL5/STK9 MLPA ONLY |
|
| CPT CODE: | 81405 |
RETT SYNDROME – CONGENITAL VARIANT FORM
| FOXG1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81404, 81402 |
| FOXG1 SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| FOXG1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| FOXG1 MLPA ONLY |
|
| CPT CODE: | 81402 |
SCN1A
| SCN1A ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81407, 81406 |
| SCN1A SEQUENCING ONLY |
|
| CPT CODE: | 81407 |
| SCN1A SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SCN1A MLPA ONLY |
|
| CPT CODE: | 81406 |
SICKLE CELL ANEMIA
| SICKLE CELL ANEMIA | |
| CPT CODE: | 81401 |
| SICKLE CELL ANEMIA (INCLUDES 2 PARENTS AND FETUS) | |
| CPT CODE: | 81401, 81401, 81401 |
SLC16A2-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY (Allan-Herndon-Dudley, Triiodothyronine resistance, X-linked ID with hypotonia)
| MCT8/SLC16A2 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| MCT8/SLC16A2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
SMITH-LEMLI-OPITZ SYNDROME (SLO)
| DHCR7 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| DHCR7 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
SNP MICROARRAY (6.0)
| SNP CHIP (6.0) WHOLE GENOME COPY NUMBER ANALYSIS | |
| CPT CODE: | 81229 |
| SNP Microarray when Routine Chrom or High Res and Fragile X have ALREADY been billed | |
| CPT CODE: | 81229 |
| SNP LOH STUDIES | |
| CPT CODE: | 81406 |
SOTOS SYNDROME
| NSD1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| NSD1 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| NSD1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| NSD1 MLPA ONLY |
|
| CPT CODE: | 81405 |
SPINAL MUSCULAR ATROPHY (SMA)
| SPINAL MUSCULAR ATROPHY (SMA) | |
| CPT CODE: | 81401 |
SPINK1-RELATED HEREDITARY PANCREATITIS
| PANCREATITIS PANEL (CTRC,PRSS1,SPINK1) ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81405, 81404, 81404, 81404 |
| SPINK1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81404, 81404 |
| SPINK1 SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| SPINK1 SEQUENCING ONLY– KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| SPINK1 MLPA ONLY |
|
| CPT CODE: | 81404 |
STICKLER SYNDROME TYPE I
| COL2A1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81408, 81406 |
| COL2A1 SEQUENCING ONLY |
|
| CPT CODE: | 81408 |
| COL2A1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| COL2A1 MLPA ONLY |
|
| CPT CODE: | 81406 |
STICKLER SYNDROME TYPE II
| COL11A1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81408, 81407 |
| COL11A1 SEQUENCING ONLY |
|
| CPT CODE: | 81408 |
| COL11A1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| COL11A1 MLPA ONLY |
|
| CPT CODE: | 81407 |
STICKLER SYNDROME TYPE III
| COL11A2 SEQUENCING ONLY |
|
| CPT CODE: | 81408 |
| COL11A2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
TAY-SACHS DISEASE
| TAY-SACHS DISEASE | |
| CPT CODE: | 81255 |
THORACIC AORTIC ANEURYSMS/DISSECTIONS
| ACTA2 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| ACTA2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| FBN1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81408, 81407 |
| FBN1 SEQUENCING ONLY |
|
| CPT CODE: | 81408 |
| FBN1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| FBN1 MLPA ONLY |
|
| CPT CODE: | 81407 |
| MYH11 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81407, 81404 |
| MYH11 SEQUENCING ONLY |
|
| CPT CODE: | 81407 |
| MYH11 MLPA ONLY |
|
| CPT CODE: | 81404 |
| MYH11 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| MYLK SEQUENCING ONLY |
|
| CPT CODE: | 81407 |
| MYLK SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| NTM SEQUENCING ONLY | |
| CPT CODE: | 81406 |
| NTM SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| PRKG1 SEQUENCING ONLY | |
| CPT CODE: | 81406 |
| PRKG1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SMAD3 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| SMAD3 MLPA ONLY |
|
| CPT CODE: | 81404 |
| SMAD3 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| TGFβ2 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| TGFβ2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| TGFβ2 MLPA ONLY |
|
| CPT CODE: | 81404 |
| TGFβR1/TGFβR2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81405, 81405, 81405 |
| TGFβR1/TGFβR2 SEQUENCING ONLY |
|
| CPT CODE: | 81405, 81405 |
| TGFβR1/TGFβR2 MLPA ONLY |
|
| CPT CODE: | 81405 |
| TGFβR1 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| TGFβR1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| TGFβR2 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| TGFβR2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
TUBEROUS SCLEROSIS
| TSC1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| TSC1 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| TSC1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| TSC1 MLPA ONLY |
|
| CPT CODE: | 81405 |
| TSC2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81407, 81406 |
| TSC2 SEQUENCING ONLY |
|
| CPT CODE: | 81407 |
| TSC2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| TSC2 MLPA ONLY |
|
| CPT CODE: | 81406 |
UNIPARENTAL DISOMY
| UNIPARENTAL DISOMY (samples from mother, father, child required) | |
| CPT CODE: | 81402 for each specimen |
USHER SYNDROME TYPE 1F
| USHER SYNDROME TYPE 1F | |
| CPT CODE: | 81401 |
USHER SYNDROME TYPE 3A
| USHER SYNDROME TYPE 3A | |
| CPT CODE: | 81401 |
VISCERAL MYOPATHY
| ACTG2 SEQUENCING ONLY | |
| CPT CODE: | 81479 |
| ACTG2 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
VON HIPPEL-LINDAU
| VHL ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81404, 81403 |
| VHL SEQUENCING ONLY | |
| CPT CODE: | 81404 |
| VHL SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| VHL MLPA ONLY |
|
| CPT CODE: | 81403 |
WAARDENBURG SYNDROME (TYPE 1, 2A, 3, 4)
| WAARDENBURG SYNDROME TYPES 1 & 3 (PAX3) ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81405, 81404 |
| WAARDENBURG SYNDROME TYPES 1 & 3 (PAX3) SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| WAARDENBURG SYNDROME TYPES 1 & 3 (PAX3) SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| WAARDENBURG SYNDROME TYPES 1 & 3 (PAX3) MLPA ONLY |
|
| CPT CODE: | 81404 |
| WAARDENBURG SYNDROME TYPE 2 (MITF) ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81404 |
| WAARDENBURG SYNDROME TYPE 2 (MITF) SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| WAARDENBURG SYNDROME TYPE 2 (MITF) SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| WAARDENBURG SYNDROME TYPE 2 (MITF) MLPA ONLY |
|
| CPT CODE: | 81404 |
| WAARDENBURG SYNDROME TYPES 2 & 4 (SOX10) ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81404, 81403 |
| WAARDENBURG SYNDROME TYPES 2 & 4 (SOX10) SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| WAARDENBURG SYNDROME TYPES 2 & 4 (SOX10) SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| WAARDENBURG SYNDROME TYPES 2 & 4 (SOX10) MLPA ONLY |
|
| CPT CODE: | 81403 |
| WAARDENBURG SYNDROME TYPE 4 (EDN3) ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81404, 81403 |
| WAARDENBURG SYNDROME TYPE 4 (EDN3) SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| WAARDENBURG SYNDROME TYPE 4 (EDN3) SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| WAARDENBURG SYNDROME TYPE 4 (EDN3) MLPA ONLY |
|
| CPT CODE: | 81403 |
| WAARDENBURG SYNDROME TYPE 4 (EDNRB) ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81405, 81404 |
| WAARDENBURG SYNDROME TYPE 4 (EDNRB) SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| WAARDENBURG SYNDROME TYPE 4 (EDNRB) SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| WAARDENBURG SYNDROME TYPE 4 (EDNRB) MLPA ONLY |
|
| CPT CODE: | 81404 |
WALKER-WARBURG SYNDROME
| WALKER-WARBURG SYNDROME | |
| CPT CODE: | 81402 |
WILSON DISEASE
| ATP7B ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| ATP7B SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| ATP7B SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| ATP7B MLPA ONLY |
|
| CPT CODE: | 81405 |
X-CHROMOSOME INACTIVATION STUDIES
| X CHROMOSOME INACTIVATION STUDY | |
| CPT CODE: | 81401 |
| X CHROMOSOME INACTIVATION REFLEX STUDY | |
| CPT CODE: | 81401 |
X-LINKED INTELLECTUAL DISABILITY
| IL1RAPL1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81405, 81403 |
| IL1RAPL1 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| IL1RAPL1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| IL1RAPL1 MLPA ONLY |
|
| CPT CODE: | 81403 |
| RAB39B SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| RAB39B SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
X-LINKED LYMPHOPROLIFERATIVE DISEASE (XLP)
| SH2D1A ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81404, 81403 |
| SH2D1A SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| SH2D1A SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SH2D1A MLPA ONLY |
|
| CPT CODE: | 81403 |
X-LINKED INTELLECTUAL DISABILITY SYNDROMES
Tier A
NLGN3 (Autism)
NLGN4 (Autism)
MECP2 (Rett syndrome)
STK9/CDKL5 (Rett syndrome – atypical)
Note: This tier is billed as 4 separate genes. There are no “Tier A” CPT codes.
| NLGN3 & NLGN4 SEQUENCING ONLY |
|
| CPT CODE: | 81405, 81404 |
| NLGN3 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| NLGN4 SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| NLGN3 SEQUENCING ONLY – KNOWN VARIANT |
|
| CPT CODE: | 81403 |
| NLGN4 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| MECP2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81302, 81304 |
| MECP2 MLPA ONLY | |
| CPT CODE: | 81403 |
| MECP2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81303 |
| MECP2 MLPA ONLY |
|
| CPT CODE: | 81304 |
| STK9/CDKL5 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| STK9/CDKL5 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| STK9/CDKL5 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| STK9/CDKL5 MLPA ONLY |
|
| CPT CODE: | 81405 |
Tier 1
DLG3
FTSJ1
JARID1C/SMCX
PHF6 (Borjeson-Forssman-Lehmann syndrome)
ZNF41
Our laboratory performs DNA sequencing of the following genes:
DLG3 (exons 1-19), FTSJ1 (exons 2-12), JARID1C/SMCX (exons 1-26), PHF6 (exons 2-10), and ZNF41 (exons 2-5).
| XLID TIER 1 SEQUENCING | |||
| CPT CODE: | 81406, 81406, 81407, 81405, 81404 | ||
| DLG3 SEQUENCING ONLY |
|||
| CPT CODE: | 81406 | ||
| DLG3 SEQUENCING ONLY – KNOWN VARIANT | |||
| CPT CODE: | 81403 | ||
| FTSJ1 SEQUENCING ONLY |
|||
| CPT CODE: | 81406 | ||
| FTSJ1 SEQUENCING ONLY – KNOWN VARIANT | |||
| CPT CODE: | 81403 | ||
| JARID1C SEQUENCING ONLY |
|||
| CPT CODE: | 81407 | ||
| JARID1C SEQUENCING ONLY – KNOWN VARIANT | |||
| CPT CODE: | 81403 | ||
| PHF6 SEQUENCING ONLY |
|||
| CPT CODE: | 81405 | ||
| PHF6 SEQUENCING ONLY – KNOWN VARIANT | |||
| CPT CODE: | 81403 | ||
| ZNF41 SEQUENCING ONLY |
|||
| CPT CODE: | 81404 | ||
| ZNF41 SEQUENCING ONLY – KNOWN VARIANT | |||
| CPT CODE: | 81403 | ||
Tier 2
GDI1
FACL4/LACS4/ACSL4
OPHN1
PQBP1 (Renpenning syndrome 1)
TM4SF2/TSPAN7
Our laboratory performs DNA sequencing for the following genes:
GDI1 (exons 1-11), FACL4 (exons 4-17), OPHN1 (exons 2-24), PQBP1 (exons 1-6), and TM4SF2 (exons 1-7).
Our laboratory performs MLPA analysis for the following genes:
GDI1 (exons 1, 7), FACL4 (exons 1, 12, 17), OPHN1 (exons 1, 3, 12, 21), PQBP1 (exons 2,5), and TM4SF2/TSPAN7 (exons 1, 5).
| XLID TIER 2 SEQUENCING | |||
| CPT CODE: | 81406, 81406, 81406, 81405, 81405 | ||
| XLID TIER 2 MLPA | |||
| CPT CODE: | 81405 | ||
| GDI1 ANALYSIS (SEQUENCING & MLPA) | |||
| CPT CODE | 81406, 81403 | ||
| GDI1 SEQUENCING ONLY |
|||
| CPT CODE: | 81406 | ||
| GDI1 SEQUENCING ONLY – KNOWN VARIANT | |||
| CPT CODE: | 81403 | ||
| GDI1 MLPA ONLY |
|||
| CPT CODE: | 81403 | ||
| FACL4 ANALYSIS (SEQUENCING & MLPA) | |||
| CPT CODE: | 81406, 81403 | ||
| FACL4 SEQUENCING ONLY |
|||
| CPT CODE: | 81406 | ||
| FACL4 SEQUENCING ONLY – KNOWN VARIANT | |||
| CPT CODE: | 81403 | ||
| FACL4 MLPA ONLY |
|||
| CPT CODE: | 81403 | ||
| OPHN1 ANALYSIS (SEQUENCING & MLPA) | |||
| CPT CODE: | 81406, 81403 | ||
| OPHN1 SEQUENCING ONLY |
|||
| CPT CODE: | 81406 | ||
| OPHN1 SEQUENCING ONLY – KNOWN VARIANT | |||
| CPT CODE: | 81403 | ||
| OPHN1 MLPA ONLY |
|||
| CPT CODE: | 81403 | ||
| PQBP1 ANALYSIS (SEQUENCING & MLPA) | |||
| CPT CODE: | 81405, 81403 | ||
| PQBP1 SEQUENCING ONLY |
|||
| CPT CODE: | 81405 | ||
| PQBP1 SEQUENCING ONLY – KNOWN VARIANT | |||
| CPT CODE: | 81403 | ||
| PQBP1 MLPA ONLY |
|||
| CPT CODE: | 81403 | ||
| TM4SF2/TSPAN7 ANALYSIS (SEQUENCING & MLPA) | |||
| CPT CODE: | 81405, 81403 | ||
| TM4SF2/TSPAN7 SEQUENCING ONLY |
|||
| CPT CODE: | 81405 | ||
| TM4SF2/TSPAN7 SEQUENCING ONLY – KNOWN VARIANT | |||
| CPT CODE: | 81403 | ||
| TM4SF2/TSPAN7 MLPA ONLY |
|||
| CPT CODE: | 81403 | ||
Tier 3
ATRX (Alpha-thalassemia Intellectual Disability syndrome)
FGD1 (Aarksog-Scott syndrome)
MID1 (X-linked Opitz G/BBB syndrome)
PLP1 (Pelizaeus-Merzbacher Disease)
RSK2/RPS6KA3 (Coffin Lowry syndrome)
SLC6A8 (Creatine transporter deficiency)
Our laboratory performs DNA sequencing for the following genes:
ATRX (exons 1-35), FGD1 (exons 1-18), MID1 (exons 4-12), PLP1 (exons 1-7), RSK2 (exons 1-22), and SLC6A8 (exons 1-13).
Our laboratory performs MLPA analysis for the following genes:
FGD1 (exons 1-18), MID1 (exons 4-12), PLP1 (exons 1-7), RSK2 (exons 1-22), and SLC6A8 (1-13).
| XLID TIER 3 SEQUENCING ONLY |
||
| CPT CODE: | 81407, 81406, 81405, 81405, 81406, 81406 | |
| XLID TIER 3 MLPA ONLY |
||
| CPT CODE: | 81406, 81405, 81405, 81404, 81405, 81404 | |
| ATRX ANALYSIS (SEQUENCING & MLPA) |
||
| CPT CODE: | 81407, 81406 | |
| ATRX SEQUENCING ONLY |
||
| CPT CODE: | 81407 | |
| ATRX SEQUENCING ONLY – KNOWN VARIANT | ||
| CPT CODE: | 81403 | |
| ATRX MLPA ONLY |
||
| CPT CODE: | 81406 | |
| FGD1 ANALYSIS (SEQUENCING AND MLPA) | ||
| CPT CODE: | 81406, 81405 | |
| FGD1 SEQUENCING ONLY | ||
| CPT CODE: | 81406 | |
| FGD1 SEQUENCING ONLY – KNOWN VARIANT | ||
| CPT CODE: | 81403 | |
| FGD1 MLPA ONLY | ||
| CPT CODE: | 81405 | |
| MID1 ANALYSIS (SEQUENCING & MLPA) | ||
| CPT CODE: | 81405, 81405 | |
| MID1 SEQUENCING ONLY |
||
| CPT CODE: | 81405 | |
| MID1 SEQUENCING ONLY – KNOWN VARIANT | ||
| CPT CODE: | 81403 | |
| MID1 MLPA ONLY |
||
| CPT CODE: | 81405 | |
| PLP1 ANALYSIS (SEQUENCING & MLPA) | ||
| CPT CODE: | 81405, 81404 | |
| PLP1 SEQUENCING ONLY |
||
| CPT CODE: | 81405 | |
| PLP1 SEQUENCING ONLY – KNOWN VARIANT |
||
| CPT CODE: | 81403 | |
| PLP1 MLPA ONLY |
||
| CPT CODE: | 81404 | |
| RSK2 ANALYSIS (SEQUENCING & MLPA) | ||
| CPT CODE: | 81406, 81405 | |
| RSK2 SEQUENCING ONLY | ||
| CPT CODE: | 81406 | |
| RSK2 SEQUENCING ONLY – KNOWN VARIANT | ||
| CPT CODE: | 81403 | |
| RSK2 MLPA ONLY | ||
| CPT CODE: | 81405 | |
| SLC6A8 ANALYSIS (SEQUENCING & MLPA) | ||
| CPT CODE: | 81406, 81404 | |
| SLC6A8 SEQUENCING ONLY | ||
| CPT CODE: | 81406 | |
| SLC6A8 SEQUENCING – KNOWN VARIANT | ||
| CPT CODE: | 81403 | |
| SLC6A8 MLPA ONLY | ||
| CPT CODE: | 81404 | |
Tier 4:
AGTR2
ARHGEF6
MED12
PAK3
SLCI16A2
Our laboratory performs DNA sequencing for the following genes:
AGTR2 (exon 3), ARHGEF6 (exons 1-22), MED12 (exons 1-45), PAK3 (exons 5-18), and SLC16A2 (exons 1-6).
Our laboratory performs MLPA analysis for the following genes:
AGTR2 (exon 1), ARHGEF6 (exons 1, 4, 9, 18), and PAK3 (exons 5, 10, 17, 18).
| XLID TIER 4 SEQUENCING ONLY |
|
| CPT CODE: | 81404, 81406, 81407, 81406, 81405 |
| XLID TIER 4 MLPA | |
| CPT CODE: | 81404 |
| AGTR2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81404, 81403 |
| AGTR2 SEQUENCING ONLY |
|
| CPT CODE: | 81404 |
| AGTR2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| AGTR2 MLPA ONLY |
|
| CPT CODE: | 81403 |
| ARHGEF6 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81403 |
| ARHGEF6 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| ARHGEF6 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| ARHGEF6 MLPA ONLY |
|
| CPT CODE: | 81403 |
| MED12 SEQUENCING ONLY |
|
| CPT CODE: | 81407 |
| MED12 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| PAK3 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81403 |
| PAK3 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| PAK3 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| PAK3 MLPA ONLY |
|
| CPT CODE: | 81403 |
| SLC16A2 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| SLC16A2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
X-LINKED INTELLECTUAL DISABILITY/EPILEPSY PANELS
Testing may be ordered by gene or in panels.
Panel 1
Angelman-like syndrome (X-linked Christianson type) (SLC9A6 sequencing)
PCDH19 sequencing (females only)
Rett syndrome (MECP2 analysis)
Rett syndrome – atypical (STK9 analysis)
| PANEL 1 (SLC9A6, PCDH19, MECP2, STK9) SEQUENCING ONLY |
|
| CPT CODE: | 81406, 81406, 81302, 81406 |
| PANEL 1 (MECP2, STK9) MLPA ONLY |
|
| CPT CODE: | 81304, 81405 |
| SLC9A6 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| SLC9A6 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| PCHD19 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| PCHD19 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| MECP2 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81302, 81304 |
| MECP2 SEQUENCING ONLY |
|
| CPT CODE: | 81302 |
| MECP2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81303 |
| MECP2 MLPA ONLY |
|
| CPT CODE: | 81304 |
| STK9/CDKL5 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81405 |
| STK9/CDKL5 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| STK9/CDKL5 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| STK9/CDKL5 MLPA ONLY |
|
| CPT CODE: | 81405 |
Panel 2
ATP6AP2 sequencing
OPHN1 analysis
Creatine (transporter) deficiency (SLC6A8 analysis)
SYN1 sequencing
| PANEL 2 (ATPGAP2, OPHN1, SLC6A8, SYN1) SEQUENCING ONLY |
|
| CPT CODE: | 81405, 81406, 81406, 81406 |
| PANEL 2 MLPA (OPHN1, SLC6A8) | |
| CPT CODE: | 81403, 81404 |
| ATPGAP2 SEQUENCING ONLY |
|
| CPT CODE: | 81405 |
| ATPGAP2 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SLC6A8 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81404 |
| SLC6A8 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| SLC6A8 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| SLC6A8 MLPA ONLY |
|
| CPT CODE: | 81404 |
| OPHN1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81406, 81403 |
| OPHN1 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| OPHN1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| OPHN1 MLPA ONLY |
|
| CPT CODE: | 81403 |
| SYN1 SEQUENCING ONLY |
|
| CPT CODE: | 81406 |
| SYN1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
XY DISORDERS OF SEX DEVELOPMENT (NR5A1-RELATED), OVARIAN INSUFFICIENCY, and SPERMATOGENIC FAILURE
| NR5A1/SF1 ANALYSIS (SEQUENCING & MLPA) | |
| CPT CODE: | 81404, 81403 |
| NR5A1/SF1 SEQUENCING ONLY | |
| CPT CODE: | 81404 |
| NR5A1/SF1 SEQUENCING ONLY – KNOWN VARIANT | |
| CPT CODE: | 81403 |
| NR5A1/SF1 MLPA ONLY | |
| CPT CODE: | 81403 |
Y-CHROMOSOME DETECTION (SRY)
| Y CHROMOSOME DETECTION (SRY) | |
| CPT CODE: | 81403 |
Y-CHROMOSOME MICRODELETIONS
| Y-CHROMOSOME MICRODELETION ANALYSIS | |
| CPT CODE: | 81406 |
ZYGOSITY
| ZYGOSITY TESTING TWINS ALONE | |
| CPT CODE: | 81265 |
| ZYGOSITY TESTING TWINS WITH BOTH PARENTS | |
| CPT CODE: | 81265, 81266 |
| ZYGOSITY TESTING TWINS WITH ONE PARENTS | |
| CPT CODE: | 81265, 81266 |