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 |