DNA Diagnostic Test CPT Codes

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