CPT Codes
The following CPT Codes reflect Ambry Genetics’ interpretation of CPT coding requirements 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
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
CHARGE Syndrome	CHD7	83891, 83894x39, 83898x38, 83904x60, 83909x45, 83912
Chromosomal Microarray	Multiple	83891,  83892x2, 83894, 88386x4, 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 if positive after 1st gene analyzed	ABCC8	83891, 83894x35, 83898x35, 83904x35, 83909x35, 83912
Congenital Hyperinsulinism SEQUENCE™ if positive after both genes analyzed	ABCC8, KCNJ11	83891x2, 83894x40, 83898x39, 83904x43, 83909x43, 83912x2
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, RPS24, RPS17, RSP7	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
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 Hypercholesterolemia Panel (LDLR GSA + APOB PGA)	LDLR GSA, APOB PGA	83891, 83894x19, 83898x18, 83904x25, 83909x25, 83912
Familial Hypercholesterolemia AMPLIFIED (LDLR + APOB GSA reflex to LDLR Del/Dup)	LDLR GSA, APOB PGA	83891, 83894x19, 83898x18, 83900, 83901x18, 83904x27, 83909x27, 83912x2
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
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 SEQUENCE™	MLH1, MSH2, MSH6	83891, 83894x38, 83898x38, 83904x48, 83900, 83901x33, 83909x49, 83912x4
Hereditary Non-Polyposis Colorectal Cancer ( Lynch Syndrome) HNPCC SEQUENCE™ If positive aftet step 1	MLH1, MSH2	83891, 83894x33, 83898x32, 83904x32, 83909x32, 83912x2
Hereditary Non-Polyposis Colorectal Cancer ( Lynch Syndrome) HNPCC SEQUENCE™ If positive aftet step 2	MLH1, MSH2 Deletion/Duplication	83891, 83894x33, 83898x33, 83904x32, 83900, 83901x33, 83909x32, 83912x3
Hereditary Non-Polyposis Colorectal Cancer (Lynch Syndrome) HNPCC AMPLIFIED™	MLH1, MSH2, MSH6	83891, 83894x33, 83898x33, 83904x32, 83900, 83901x33, 83909x32, 83912x3
Hereditary Non-Polyposis Colorectal Cancer (Lynch Syndrome) HNPCC Gene Sequence	MLH1, MSH2	83891, 83894x33, 83898x32, 838904x32, 83909x32, 83912x12
Hereditary Non-Polyposis Colorectal Cancer (Lynch Syndrome) HNPCC Deletion/Duplication	MLH1, MSH2	83891, 83894, 83900, 83901x33, 83909, 83912
Hereditary Non-Polyposis Colorectal Cancer (Lynch Syndrome) HNPCC, MLH1-Related	MLH1	83891, 83894x17, 83898x16, 83904x16, 83909x16, 83912
Hereditary Non-Polyposis Colorectal Cancer (Lynch Syndrome) HNPCC, MSH2-Related	MSH2	83891, 83894x17, 83898x16, 83904x16, 83909x16, 83912
Hereditary Non-Polyposis Colorectal Cancer (Lynch Syndrome) HNPCC, MSH6-Related	MSH6	83891, 83894x17, 83898x16, 83904x16, 83909x16, 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
Maternal Cell Contamination	all genes	83894, 83898x7, 83909x2, 83912
MODY SEQUENCE™ if positive after 1st gene analyzed	TCF1	83891, 83894x10, 83898x9, 83904x20, 83909x20, 83912
MODY SEQUENCE™ if positive after 2nd gene analyzed	GCK, TCF1	83891, 83894x21, 83898x19, 83904x40, 83909x40, 83912x2
MODY SEQUENCE™ if positive after 3rd gene analyzed	GCK, HNF4A, TCF1	83891, 83894x32, 83898x29, 83904x60, 83909x60, 83912x3
MODY 1	HNF4A	83891, 83894x11, 83898x10, 83904x20, 83909x20, 83912
MODY 2	GCK	83891, 83894x11, 83898x10, 83904x20, 83909x20, 83912
MODY 3	TCF1	83891, 83894x10, 83898x9, 83904x20, 83909x20, 83912
MODY 4	IPF1	83891, 83894x5, 83898x4, 83904x8, 83909x8, 83912
MODY 5	TCF2	83891, 83894x11, 83898x10, 83904x20, 83909x20, 83912
MODY 1-3 Deletion/Duplication	GCK, HNF4A, TCF1	83891, 83894, 83900, 83901x40, 83909, 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 SEQUENCE™ if positive after 1st gene analyzed	ABCC8	83891, 83894x35, 83898x35, 83904x35, 83909x35, 83912
Neonatal Diabetes SEQUENCE™ if positive after 1st gene analyzed	KCNJ11	83891, 83894x5, 83898x4, 83904x8, 83909x8, 83912
Neonatal Diabetes SEQUENCE™ if positive after 2nd gene analyzed	KCNJ11, INS	83891, 83894x8, 83898x6, 83904x12, 83909x12, 83912x2
Neonatal Diabetes SEQUENCE™ if positive after 3rd gene analyzed	ABCC8, INS, KCNJ11	83891, 83894x43, 83898x41, 83904x47, 83909x47, 83912x3
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
Renal Cysts & Diabetes AMPLIFIED™	TCF2	83891, 83894x11, 83898x10, 83900, 83901x8, 83904x20, 83909x21, 83912
Renal Cysts & Diabetes Deletion/Duplication	TCF2	83891, 83894, 83900, 83901x8, 83909, 83912
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
X-Linked Mental Retardation	CDKL5	83891, 83894x23, 83898x22, 83904x43, 83909x43, 83912