CPT Codes

Ambry Genetics' interpretation of CPT Coding requirements is based on AMA Guidelines. The codes (in single units) are required to obtain insurance authorization. Most codes are billed in multiple units.

CPT Codes are provided only as a guide to assist you in billing. CPT coding is the sole responsibility of the billing party.

Disease Gene(s) CPT Code(s)
Alagille Syndrome AMPLIFIED™ JAG1 83891, 83894x26, 83898x25, 83900, 83901x24, 83904x48, 83909x48, 83912x2
Alagille Syndrome JAG1 83891, 83894x26, 83898x25, 83904x48, 83909x48, 83912x2
Alagille Deletion/Duplication JAG1 83891, 83894, 83900, 83901x24, 83909, 83912
Alpha-1-Antitrypsin Deficiency SERPINA1 83891, 83894x5, 83898x4, 83904x10, 83909x10, 83912
Aminoglycoside-Related Hearing Loss MT-RNR1 83891, 83894x4, 83898x3, 83904x6, 838909x6, 83912
Amyotrophic Lateral Sclerosis (ALS)
ALS SEQUENCE™		 ANG, FIG4, FUS, SOD1, TARDBP 83891, 83894x47, 83898x46, 83904x80, 83909x80, 83912x5
Amyotrophic Lateral Sclerosis (ALS)
ALS SEQUENCE™: Step 1 (SOD1 only)		 SOD1 83891, 83894x6, 83898x5, 83904x10, 83909x10, 83912
Angelman Syndrome SEQUENCE™ SNRPN methylation, UBEA3 83891, 83892, 83894x12, 83898x11, 83904x26, 83909x26, 83912x2
Angelman Syndrome UBE3A 83891, 83894x11, 83898x10, 83904x23, 83909x23, 83912
Angelman-like Syndrome, X-linked SLC9A6 83891, 83894x16, 83898x15, 83904x28, 83909x28, 83912
Ashkenazi Jewish FlexPanel ASPA, BCKDHA, BCKDHB, BLM, FANCC, GBA, G6PC, HEXA, IKBKAP, MCOLN1, SMPD1 83891, 83894, 83898x30, 83904x30, 83909x30, 83912
Atypical Rett Syndrome CDKL5 83891, 83894x2S3, 83898x22 , 83904x43, 83909x43, 83912
Beta Thalassemia HBB 83891, 83894x3, 83898x2, 83904x8, 83909x8, 83912
Canavan Disease ASPA 83891, 83894x7, 83898x6, 83900, 83901x4, 83904x12, 83909x13, 83912x2
CASK-Related XLMR CASK 83891, 83894x26, 83898x27, 83904x52, 83909x52, 83912x4
CHARGE Syndrome CHD7 83891, 83894x39, 83898x38, 83904x60, 83909x45, 83912
Chromosomal Microarray 180K Oligo 83891, 83892x2, 83894, 88386x3, 83912
Chymotrypsin C-Related Pancreatitis CTRC 83891, 83894x8, 83898x7, 83904x14, 83909x14, 83912
Congenital Central
Hypoventilation Syndrome (CCHS)		 PHOX2B 83891, 83894x5, 83898x4, 83904x8, 83909x8, 83912
Congenital Hyperinsulinism GCK 83891, 83894x11, 83898x10, 83904x20, 83909x20, 83912
Congenital Hyperinsulinism GLUD1 83891, 83894x13, 83898x12, 83904x24, 83909x24, 83912
Congenital Hyperinsulinism KCNJ11 83891, 83894x5, 83898x4, 83904x8, 83909x8, 83912
Cystic Fibrosis
508 First™ 		CFTR 83891, 83892, 83894x2, 83898, 83912
Cystic Fibrosis AMPLIFIED™ CFTR 83891, 83894x2, 83898x77, 83900, 83901x27, 83903x29, 83904, 83909, 83912x2
Cystic Fibrosis
Gene Sequence Analysis		 CFTR 83891, 83894x2, 83898x82, 83903x29, 83904, 83909, 83912
Cystic Fibrosis
Deletion/Duplication		 CFTR 83891, 83894, 83900, 83901x27, 83909, 83912
Cystic Fibrosis
TG Repeat		 CFTR 83891, 83894, 83898, 83904x2, 83909x2, 83912
Diamond-Blackfan Anemia SEQUENCE™ Complete RPS19, RPL5, RPL11, RPL35A RPS26, RPS24, RPS17, RSP7, RPS10 83891, 83894x38, 83898x37, 83904x74, 83909x74, 83912x7
Diamond-Blackfan Anemia SEQUENCE™ Steps 1 & 2 RPS19, RPL5, RPL11, RPL35A 83891, 83894x23, 83898x22, 83904x44, 83909x44, 83912x4
Diamond-Blackfan Anemia SEQUENCE™ Step 2 only RPL5, RPL11, RPL35A 83891, 83894x17, 83898x16, 83904x32, 83909x32, 83912x3
Diamond-Blackfan Anemia SEQUENCE™ Steps 2 & 3 RPL5, RPL11, RPL35A, RPS24, RPS17, RSP7 83891, 83894x32, 83898x31, 83904x62, 83909x62, 83912x6
Diamond-Blackfan Anemia RPS19 83891, 83894x7, 83898x6, 83904x12, 83909x12, 83912
Diamond-Blackfan Anemia RPL5 83891, 83894x8, 83898x7, 83904x14, 83909x14, 83912
Diamond-Blackfan Anemia RPL11 83891, 83894x7, 83898x6, 83904x12, 83909x12, 83912
Diamond-Blackfan Anemia RPL35A 83891, 83894x4, 83898x3, 83904x6, 83909x6, 83912
Diamond-Blackfan Anemia RPS24 83891, 83894x6, 83898x5, 83904x10, 83909x10, 83912
Diamond-Blackfan Anemia RPS17 83891, 83894x6, 83898x5, 83904x10, 83909x10, 83912
Diamond-Blackfan Anemia RPS7 83891, 83894x6, 83898x5, 83904x10, 83909x10, 83912
Diamond-Blackfan Anemia RPS10 83891, 83894x5, 83898x4, 83904x8, 83909x8, 83912
Diamond-Blackfan Anemia RPS26 83891, 83894x4, 83898x3, 83904x6, 83909x6, 83912
Dyskeratosis Congenita
Complete pathway, Steps 1-3		 DKC1, TINF2, TERC, NHP2, NOP10, TERT 83891, 83894x39, 83898x38, 83904x75, 83909x76, 83912x3
Dyskeratosis Congenita
Steps 1 & 2 		DKC1, TINF2, TERC, NHP2, NOP10 83891, 83894x20, 83898x19, 83904x38, 83909x38, 83912x2
Dyskeratosis Congenita
Step 1 Only		 DKC1, TINF2, TERC 83891, 83894x18, 83898x17, 83904x 34, 83909x34, 83912
Dyskeratosis Congenita
Step 2 Only		 NHP2, NOP10 83891, 83894x3, 83898x2, 83904x4, 83909x4, 83912
Dyskeratosis Congenita
Step 3 Only		 TERT 83891, 83894x20, 83898x19, 83904x38, 83909x38, 83912
Dyskeratosis Congenita DKC1 83891, 83894x16, 83898x15, 83904x30, 83909x30, 83912
Dyskeratosis Congenita TINF2 83891, 83894x2, 83898, 83904x2, 83909x2, 83912
Dyskeratosis Congenita TERC 83891, 83894x2, 83898, 83904x2, 83909x2, 83912
Fabry Disease GLA 83891, 83894x9, 83898x8, 83904x16, 83909x16, 83912
Familial Adenomatous Polyposis
APC AMPLIFIED™		 APC 83891, 83894x25, 83898x25, 83900, 83901x24, 83904x26, 83909x26, 83912x2
Familial Adenomatous Polyposis
APC Gene Sequence Analysis		 APC 83891, 83894x25, 83898x25, 83904x30, 83909x30, 83912
Familial Adenomatous Polyposis
APC Deletion/Duplication		 APC 83891, 83894, 83900, 83901x24, 83909, 83912
Familial Hypercholesterolemia Panel
(LDLR GSA + APOB PGA) 		LDLR GSA, APOB PGA 83891, 83894x19, 83898x18, 83904x25, 83909x25, 83912
Familial Hypercholesterolemia AMPLIFIED (LDLR + APOB PSA reflex to LDLR Del/Dup) LDLR GSA, APOB PGA 83891, 83894x19, 83898x18, 83900, 83901x18, 83904x27, 83909x27, 83912x2
Familial Hypercholesterolemia Comprehensive
(LDLR GSA + Del/Dup , PCSK9 GSA, APOB GSA) 		LDLR GSA, APOB PGA 83891, 83894x30, 83898x29, 83904x58, 83900, , 83901x18, 83909x58, 83912x3
Familial Hypercholesterolemia
LDLR Gene Sequence Analysis		 LDLR 83891, 83894x18, 83898x17, 83904x20, 83909x20, 83912
Familial Hypercholesterolemia
LDLR Del/Dup 		LDLR 83891, 83894, 83900, 83901x18, 83909, 83912
Familial Hypercholesterolemia
APOB Partial Gene Analysis		 APOB 83891, 83894x2, 83898, 83904x2, 83909x2, 83912
Familial Hypocalciuric Hypercalcemia (FHH) CASR 83891, 83894x10, 83898x9, 83904x18, 83909x18, 83912
Fragile X Syndrome FMR1 83891, 83892x2, 83894x2, 83896x2, 83897x2, 83898, 83909, 83912, 99001
FRAXE FMR2 83891, 83892x2, 83894, 83896, 83898, 83912
Gaucher Disease GBA 83891, 83894x15, 83898x14, 83904x20, 83909x20, 83912
Glutaric Acidemia Type 1 GCDH 83891, 83894x9, 83898x8, 83904x16, 83909x16, 83912
Glycogen Storage Disease
Type Ia		 G6PC 83891, 83894x7, 83898x6, 83904x12, 83909x12, 83912
Glycogen Storage Disease
Type Ib 		SLC37A4 83891, 83894x7, 83898x6, 83904x12, 83909x12, 83912
Hearing Loss, Aminoglycoside-Related MT-RNR1 83891, 83894x4, 83898x3, 83904x6, 83909x6, 83912
Hereditary Angioedema
AMPLIFIED™		 SERPING1 83891, 83894x8, 83898x7, 83904x15, 83900, 83901x6, 83909x16, 83912x2
Hereditary Angioedema
Full Gene Sequence		 SERPING1 83891, 83894x8, 83898x7, 83904x15, 83909x15, 83912
Hereditary Angioedema
Deletion/Duplication		 SERPING1 83891, 83894, 83900, 83901x6, 83909, 839 12
Hereditary Hemorrhagic Telangiectasia
HHT AMPLIFIED™ 		ACVRL1, ENG 83891, 83894x25, 83898x24, 83900, 83901x27, 83904x29, 83909x29, 83912x3
Hereditary Hemorrhagic Telangiectasia
HHT Full Gene Sequence		 ACVRL1, ENG 83891, 83894x25, 83898x24, 83904x29, 83909x29, 83912x2
Hereditary Hemorrhagic Telangiectasia
HHT Deletion/Duplication		 ACVRL1, ENG 83891, 83894, 83900, 83901x27, 83909, 83912
Hereditary Hemorrhagic Telangiectasia
HHT SMAD4-Related		 SMAD4 83891, 83894x5, 83898x4, 83904x8, 83909x8, 83912
Hereditary Hemorrhagic Telangiectasia
HHT		 ENG 83891, 83894x16, 83898x15, 83904x20, 83909x20, 83912
Hereditary Hemorrhagic Telangiectasia
HHT		 ACVRL1 83891, 83894x10, 83898x9, 83904x18, 83909x18, 83912
Hereditary Non-Polyposis Colorectal Cancer
(Lynch Syndrome)
HNPCC/Lynch syndrome SEQUENCE		 MLH1, MSH2, MSH6 83891, 83894x38, 83900, 83898x38, 83901x33, 83904x48, 83909x49, 83912x4
Hereditary Non-Polyposis Colorectal Cancer
(Lynch Syndrome)
HNPCC/Lynch syndrome SEQUENCE If positive after step 1 		MLH1, MSH2
 83891, 83894x33, 83898x 32 , 83904x32 , 83909x32 , 83912x2
Hereditary Non-Polyposis Colorectal Cancer
(Lynch Syndrome)
MLH1–Related HNPCC/Lynch syndrome		 MLH1 83891, 83894x17, 83898x16, 83900, 83901x23, 83904x16, 83909x16, 83912
Hereditary Non-Polyposis Colorectal Cancer
(Lynch Syndrome)
MSH2 –Related HNPCC/Lynch syndrome		 MSH2 83891, 83894x17, 83898x16, 83900, 83901x23, 83904x16, 83909x16, 83912
Hereditary Non-Polyposis Colorectal Cancer
(Lynch Syndrome)
MSH6 –Related HNPCC/Lynch syndrome		 MSH6 83891, 83894x17, 83898x16, 83900, 83901x23, 83904x16, 83909x16, 83912
Hereditary Non-Polyposis Colorectal Cancer
(Lynch Syndrome)
TACSTD1/EPCAM –Related HNPCC/Lynch syndrome		 TACSTD1/EPCAM 83891, 83894x17, 83898x16, 83900, 83901x9, 83909, 83912
Hunter Syndrome IDS 83891, 83894x10, 83898x9, 83904x20, 83909x20, 83912
Hurler Syndrome IDUA 83891, 83894x12, 83898x11, 83904x22, 83909x22, 83912
Hyperinsulinism-Hyperammonemia GLUD1 83891, 83894x13, 83898x12, 83904x24, 83909x24, 83912
Infantile Spasms CDKL5 83891, 83894x23, 83898x22, 83904x43, 83909x43, 83912
Interstitial Lung Disease ABCA3 83891, 83894x31, 83898x30, 83904x40, 83909x40, 83912
Interstitial Lung Disease SFTPC 83891, 83894x6, 83898x5, 83904x11, 83909x11, 83912
IPF Telomerase TERT, TERC 83891, 83894x21, 83898x20, 83904x40, 83909x40, 83912x2
Juvenile Polyposis AMPLIFIED™ BMPR1A, SMAD4 83891, 83894x20, 83898x19, 83900, 83901x28, 83904x33, 83909x34, 83912x3
LEOPARD Syndrome PTPN11, RAF1 83891, 83894x19, 83898x18, 83904x36, 83909x36, 83912x2
Li-Fraumeni Syndrome (TP53 AMPLIFIED™) TP53 83891, 83894x8, 83898x7, 83900, 83901x10, 83904x14, 83909x15, 83912x2
Maternal Cell Contamination all genes 83894, 83898x7, 83909x2, 83912
Multiple Endocrine Neoplasia Type 1 MEN1 83891, 83894x8, 83898x7, 83904x14, 83909x14, 83912
Multiple Endocrine Neoplasia Type 2 AMPLIFIED™ RET 83891, 83894x21, 83898x20, 83904x35, 83909x35, 83912
Multiple Endocrine Neoplasia Type 2
Step 1 (exons: 10,11, 13-16)		 RET 83891, 83894x10, 83898x9, 83904x18, 83909x18, 83912
Neimann-Pick Disease
Types A & B		 SMPD1 83891, 83894x7, 83898x6, 83904x12, 83909x12, 83912
Neonatal Diabetes
 KCNJ11 83891, 83894x5, 83898x4, 83904x8, 83909x8, 83912
Neonatal Diabetes GCK 83891, 83894x11, 83898x10, 83904x20, 83909x20, 83912
Neonatal Diabetes INS 83891, 83894x3, 83898x2, 83904x4, 83909x4, 83912
Neonatal Diabetes IPF1 83891, 83894x5, 83898x4, 83904x8, 83909x8, 83912
Neonatal Diabetes GLUD1 83891, 83894x13, 83898x12, 83904x24, 83909x24, 83912
Neonatal Respiratory Failure ABCA3 83891, 83894x31, 83898x30, 83904x40, 83909x40, 83912
Neonatal Respiratory Failure SFTPB 83891, 83894x11, 83898x10, 83904x20, 83909x20, 83912
Noonan Syndrome SEQUENCE™ KRAS, PTPN11, RAF1, SOS1 83891x 1, 83894x48, 83898x47 83904x94, 83909x94, 83912x4
Noonan Syndrome SEQUENCE™
Step 1 only		 PTPN11 83891, 83894x15, 83898x14, 83904x28, 83909x28, 83912
Noonan Syndrome SEQUENCE™
Step 2 only		 KRAS, RAF1, SOS1 83891, 83894x34, 83898x33, 83904x66, 83909x66, 83912x3
Noonan Syndrome
Related Disorder		 SOS1 83891, 83894x25, 83898x24, 83904x28, 83909x48, 83912
Noonan Syndrome
Related Disorder		 KRAS 83891, 83894x6, 83898x5, 83904x10, 83909x10, 83912
Noonan/LEOPARD Syndrome SEQUENCE™
 KRAS, PTPN11, RAF1, SOS1 83891, 83894x48, 83898x47, 83904x94, 83909x94, 83912x4
Noonan/LEOPARD Syndrome SEQUENCE™ Step 1
 PTPN11, RAF1 83891, 83894x19, 83898x18, 83904x36, 83909x36, 83912x2
Noonan/LEOPARD Syndrome SEQUENCE™ Step 2
 KRAS, SOS1 83891, 83894x30, 83898x29, 83904x58, 83909x58, 83912x2
Noonan/LEOPARD Syndrome
Related Disorder		 PTPN11 83891, 83894x15, 83898x14, 83904x28, 83909x28, 83912
Noonan/LEOPARD Syndrome
Related Disorder
 RAF1 83891, 83894x15, 83898x14, 83904x30, 83909x30, 83912
PALB2-Related Cancer
 PALB2 83891, 83894x16, 83898x15, 83904x30, 83909x30, 83912
Pancreatitis AMPLIFIED™
(Panel + CFTR Del/Dup)		 CFTR, PRSS1, SPINK1 83891, 83894x2, 83898x86, 83900, 83901x27, 83903x41, 83904x3, 83909x3, 83912x4
Pancreatitis Panel CFTR, PRSS1, SPINK1 83891, 83894x2, 83898x94, 83903x44, 83904x2, 83909x2, 83912x3
Pancreatitis PRSS1 83891, 83894, 83898x17, 83903x7, 83904, 83909, 83912
Pancreatitis SPINK1 83891, 83894, 83898x14, 83903x8, 83904, 83909, 83912
Pancreatitis CTRC 83891, 83894x8, 83898x7, 83904x14, 83909x14, 83912
Peutz-Jeghers AMPLIFIED™ STK11 83891, 83894x9, 83898x8, 83904x17, 83900, 83901x11, 83909x16, 83912x2
Peutz-Jeghers
Gene Sequence Analysis		 STK11 83891, 83894x9, 83898x8, 83904x16, 83909x16, 83912
Peutz-Jeghers
Deletion/Duplication Analysis		 STK11 83891, 83894, 83900, 83901x11, 83909x1, 83912x2
PKU (Phenylketonuria) PAH 83891, 83894x14, 83898x13, 83904x21, 83909x21, 83912
Pompe Disease GAA 83891, 83894x19, 83898x18, 83904x34, 83909x34, 83912
Prader-Willi/Angelman Syndrome
Methylation Analysis		 SNRPN methylation 83891, 83892, 83894x2, 83898, 83904x3, 83909x3, 83912
Primary Ciliary Dyskinesia
PCD 61™		 DNAI1, DNAH5 83891, 83894, 83898x20, 83904x20, 83909x20, 83912
PTEN-Related Disorders PTEN 83891, 83894x12, 83898x11, 83904x22, 83909x22, 83912
Pulmonary Arterial Hypertension
PAH AMPLIFIED™		 BMPR2 83891, 83894x17, 83898x16, 83900, 83901x13, 83904x33, 83909x33, 83912x2
Pulmonary Arterial Hypertension
PAH Deletion/Duplication 		BMPR2 83891, 83894, 83900, 83901x13, 83909, 83912
Pulmonary Fibrosis
(IPF)		 TERC, TERT 83891, 83894x21, 83898x20, 83904x40, 83909x40, 83912x2
RET-Related Hirschsprung
AMPLIFIED™		 RET 83891, 83894x21, 83898x20, 83904x35, 83909x35, 83912
RET-Related Hirschsprung
AMPLIFIED™ Step 1		 RET 83891, 83894x7, 83898x6, 83904x12, 83909x12, 83912
Rett Syndrome CDKL5, MECP2 83891x2, 83894x32, 83898x30, 83900, 83901x12, 83904x59, 83909x60, 83912x3
Rett Syndrome
MECP2		 MECP2 83891, 83894x9, 83898x8, 83904x16, 83909x16, 83912
Rett Syndrome
MECP2 AMPLIFIED™		 MECP2 83891, 83894x9, 83898x8, 83900, 83901x12, 83904x16, 83909x17, 83912x2
Rett Syndrome
MECP2 Deletion/Duplication		 MECP2 83891, 83894, 83900, 83901x12, 83909, 83912
Rett Syndrome Atypical CDKL5 83891, 83894x23, 83898x22, 83904x43, 83909x43, 83912
Shwachman-Diamond Syndrome (SDS) SBDS 83891, 83894x5, 83898x4, 83904x10, 83909x10, 83912
Sickle-Beta Thalassemia HBB 83891, 83894x3, 83898x2, 83904x8, 83909x8, 83912
Smith-Lemli-Opitz Syndrome (SLOS) DHCR7 83891, 83894x8, 83898x7, 83904x14, 83909x14, 83912
Specific Mutation Analysis (1 mutation)   83891, 83894x2, 83898, 83904x2, 83909x2, 83912
Specific Mutation Analysis (1 entire exon)   83891, 83894x2, 83898, 83904x2, 83909x2, 83912
Specific Mutation Analysis (2 mutation)   83891, 83894x3, 83898x2, 83904x4, 83909x4, 83912
Specific Mutation Analysis (3 mutation)   83891, 83894x4, 83898x3, 83904x6, 83909x6, 83912
Specific Mutation Analysis (4 mutation)   83891, 83894x5, 83898x4, 83904x8, 83909x8, 83912
Surfactant Protein Deficiency ABCA3 83891, 83894x31, 83898x30, 83904x40, 83909x40, 83912
Surfactant Protein B Deficiency SFTPB 83891, 83894x11, 83898x10, 83904x20, 83909x20, 83912
Surfactant Protein C Deficiency SFTPC 83891, 83894x6, 83898x5, 83904x11, 83909x11, 83912
Tay-Sachs Disease HEXA 83891, 83894x16, 83898x15, 83904x28, 83909x28, 83912
Transthyretin Amyloidosis TTR 83891, 83894x5, 83898x4, 83904x8, 83909x8, 83912
Von Hippel-Lindau Disease VHL 83891, 83894, 83898, 83904, 83909, 83912
Warfarin Sensitivity VKORC1, CYP2C9 83891, 83894x4, 83898x3, 83904x6, 83909x6, 83912
Wilson Disease ATP7B 83891, 83894x26, 83898x26, 83904x33, 83909x33, 83912
XLMR Evaluation (180K Array, Next Gen Sequencing Panel™) Multiple Genes 83891, 83892x7, 83894x23, 83896x2, 83898x10, 83900, 83901x80, 83904x80, 83909x20, 83912x2, 88386x3
XLMR 180K Array Multiple Genes 83891, 83892x2, 83894, 88386x3, 83912
XLMR Next Gen Sequencing Panel™ Multiple Genes 83891, 83892x5, 83894x22, 83898x10, 83900, 83901x80, 83904x80, 83909x20, 83912