Tests by Gene

Ambry Genetics has cataloged all of our tests and organized them below by gene. The comprehensive listing of tests by gene is organized in alphabetical order.

Gene Tests
ABCA3 ABCA3-Related Surfactant Dysfunction,
Surfactant Dysfunction
ABCD1 ABCD1 Next-Gen
ACADM MCAD Deficiency
ACSL4/FACL4 ACSL4 Next-Gen
ACTA2 ACTA2
ACVRL1 HHT AMPLIFIED™ & SMAD4-Related HHT
AGA SCID (Autosomal Recessive / Adenosine Deaminase Deficiency),
Aspartylglucosaminuria
AGTR2 AGTR2 Next-Gen
AGXT Hyperoxaluria, Primary, Type 1
ALDOB Hereditary Fructose Intolerance
ALPL Hypophosphatasia
ANG Amyotrophic Lateral Sclerosis (ALS)
AP1S2 AP1S2 Next-Gen
APC APC Amplified
APOB Familial Hypercholesterolemia AMPLIFIED
ARHGEF6 ARHGEF6 Next-Gen
ARHGEF9 ARHGEF9 Next-Gen
ARX ARX-Related XLMR,
ARX Next-Gen
ASL Argininosuccinic Aciduria
ASPA Canavan AMPLIFIED,
Canavan Disease (part of Ashkenazi Jewish FlexPanel),
Canavan Disease (AmbrySCREEN)
ASS1 Citrullinemia Type 1
ATM Ataxia-Telangiectasia
ATP7A ATP7A Next-Gen
ATP7B Wilson Disease
ATRX/XNP/XH2 ATRX-Related XLMR,
ATRX Next-Gen
BBS1 BBS1 and BBS10-Related Bardet-Biedl Syndrome
BBS10 BBS1 and BBS10-Related Bardet-Biedl Syndrome
BCKDHA Maple Syrup Urine Disease Types 1A & 1B (part of Ashkenazi Jewish FlexPanel),
Maple Syrup Urine Disease Type 1A and 1B
BCKDHB Maple Syrup Urine Disease Types 1A & 1B (part of Ashkenazi Jewish FlexPanel),
Maple Syrup Urine Disease Type 1A and 1B
BCOR BCOR Next-Gen
BCS1L Mitochondrial Respiratory Chain Complex III Deficiency
BLM Bloom Syndrome (part of Ashkenazi Jewish FlexPanel)
BMPR1A Juvenile Polyposis AMPLIFIED™
BMPR2 PAH AMPLIFIED™ (Pulmonary Arterial Hypertension)
BRAF HNPCC / Lynch Syndrome Tumor Testing
BRWD3 BRWD3 Next-Gen
BTD Biotinidase Deficiency
CASK CASK-Related XLMR,
CASK Next-Gen,
CASK Next-Gen
CBS Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency ,
CBS
CCM2 Cerebral Cavernous Malformations (CCM)
CDH1 Hereditary Diffuse Gastric Cancer
CDKL5 CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome),
Rett Syndrome, Typical and Atypical,
CDKL5 Next-Gen
CDKN2A Malignant Melanoma (CDKN2A/p16)
CFTR Cystic Fibrosis (including 508 FIRST, CF AMPLIFIED and CF 102),
Pancreatitis (PRSS1, SPINK1, CFTR sequence),
Pancreatitis AMPLIFIED (CFTR, PRSS1, SPINK1 with CFTR del/dup),
Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence),
Pancreatitis, CFTR-Related (CFTR sequence),
Pancreatitis, CFTR-Related (CFTR del/dup),
Cystic Fibrosis mutation panel for AmbrySCREEN,
Cystic Fibrosis (part of Ashkenazi Jewish FlexPanel)
CHD7 CHARGE Syndrome
CHEK2 CHEK2-Related Cancer
CLN3 Batten Disease (Juvenile Neuronal Ceroid-Lipofuscinosis)
CLN5 CLN5- and CLN8-Related Neuronal Ceroid-Lipofuscinosis
CLN8 CLN5- and CLN8-Related Neuronal Ceroid-Lipofuscinosis
CLRN1 Usher Syndrome Type III (part of Ashkenazi Jewish FlexPanel),
Usher Syndrome Type III
COL3A1 COL3A1
CPT2 Carnitine Palmitoyltransferase II Deficiency
CTRC Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence),
Pancreatitis, CTRC-Related
CUL4B CUL4B-Related XLMR,
CUL4B Next-Gen
DCX DCX Next-Gen
DHCR7 Smith-Lemli-Opitz Syndrome (SLOS)
DICER1 Pleuropulmonary Blastoma (PPB) Family Tumor and Dysplasia Syndrome, DICER1 Syndrome,
DICER1 Syndrome
DKC1 Dyskeratosis Congenita,
DKC1 Next-Gen
DLD Maple Syrup Urine Disease Type 3 (part of Ashkenazi Jewish FlexPanel),
Maple Syrup Urine Disease Type 3
DNAAF1 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
DNAAF2 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
DNAH11 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
DNAH5 PCD 61™
DNAI1 PCD 61™
DNAI2 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
DPYD Hereditary Thymine-Uraciluria / Dihydropyrimidine dehydrogenase deficiency (DPYD)
ENG HHT AMPLIFIED™ & SMAD4-Related HHT
EPCAM HNPCC / Lynch syndrome DNA Analysis
ETHE1 Ethylmalonic Encephalopathy
F2 Thrombophilia FlexPanel (Factor II-Prothrombin G20210A, Factor V-Leiden, MTHFR-C677T, MTHFR-A1298C)
F5 Thrombophilia FlexPanel (Factor II-Prothrombin G20210A, Factor V-Leiden, MTHFR-C677T, MTHFR-A1298C)
FAH Tyrosinemia Type I
FALDH Sjogren-Larsson Syndrome
FANCC Fanconi Anemia Group C (part of Ashkenazi FlexPanel)
FBN1 FBN1
FBN2 FBN2
FIG4 Amyotrophic Lateral Sclerosis (ALS)
FMR1 Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis)
FMR2 FRAXE (FMR2) DNA Analysis
FUS Amyotrophic Lateral Sclerosis (ALS)
G6PC Glycogen Storage Disease Types 1A & 1B ,
Glycogen Storage Disease Type 1A (part of Ashkenazi FlexPanel)
GAA Pompe Disease
GALC Krabbe Disease
GALK1 Galactokinase Deficiency
GALT Galactosemia
GAMT Guanidinoacetate Methyltransferase Deficiency
GBA Gaucher Disease ,
Gaucher Disease (part of Ashkenazi Jewish FlexPanel)
GCDH Glutaric Acidemia Type 1
GLA Fabry Disease
GLDC GLDC-Related Glycine Encephalopathy (AmbrySCREEN)
GLUD1 GLUD1 (Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism)
GRHPR Hyperoxaluria, Primary, Type 2
GSS Glutathione synthetase deficiency (GS)
HADHA Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | LCHAD Deficiency HADHA
HBB Beta Thalassemia Plus (Sickle Cell Anemia, Sickle-Beta Thalassemia)
HEXA Tay-Sachs Plus,
Tay-Sachs Disease (part of Ashkenazi Jewish FlexPanel)
HLCS Holocarboxylase Synthetase Deficiency
HMGCL 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
IDS Hunter Syndrome
IDUA Hurler Syndrome
IKBKAP Familial Dysautonomia (part of Ashkenazi Jewish FlexPanel)
IL2RG X-Linked Severe Combined Immunodeficiency
INS INS-Related Diabetes, Neonatal Diabetes (INS-Related)
JAG1 Alagille AMPLIFIED™
KCNJ11 Congenital Hyperinsulinism, KCNJ11-Related Diabetes
KRAS Noonan Syndrome and Noonan/LEOPARD Syndrome
KRIT1 Cerebral Cavernous Malformations (CCM)
L1CAM L1CAM-Related XLMR
LDLR Familial Hypercholesterolemia AMPLIFIED
LRPPRC Leigh Syndrome, French-Canadian Type
MCOLN1 Mucolipidosis Type IV,
Mucolipidosis Type IV (part of Ashkenazi Jewish FlexPanel)
MECP2 Rett Syndrome ,
Rett Syndrome, Typical and Atypical
MEFV Familial Mediterranean Fever
MEN1 Multiple Endocrine Neoplasia Type1 (MEN1)
MLH1 HNPCC / Lynch syndrome DNA Analysis,
HNPCC / Lynch Syndrome Tumor Testing
MMAA Methylmalonic Acidemia, MMAA, MMAB and MUT Related
MMAB Methylmalonic Acidemia, MMAA, MMAB and MUT Related
MMACHC Methylmalonic Acidemia and Homocystinuria, cblC type
MSH2 HNPCC / Lynch syndrome DNA Analysis,
HNPCC / Lynch Syndrome Tumor Testing
MSH6 HNPCC / Lynch syndrome DNA Analysis,
HNPCC / Lynch Syndrome Tumor Testing
MT-RNR1 Aminoglycoside-Related Hearing Loss
MTHFR Thrombophilia FlexPanel (Factor II-Prothrombin G20210A, Factor V-Leiden, MTHFR-C677T, MTHFR-A1298C)
MUT Methylmalonic Acidemia, MMAA, MMAB and MUT Related
MUTYH MUTYH-associated Polypsis (MAP)
MYH11 MYH11
NBN Nijmegen breakage syndrome
NEB Nemaline Myopathy (part of Ashkenazi Jewish FlexPanel),
Nemaline Myopathy
NHP2 Dyskeratosis Congenita
NLGN3 NLGN3-Related XLMR
NLGN4/NLGN4X NLGN4-Related XLMR
NOP10 Dyskeratosis Congenita
NPC1 Niemann-Pick Disease Type C
NPC2 Niemann-Pick Disease Type C
NPHS1 Congenital Finnish Nephrosis
NPHS2 Steroid-Resistant Nephrotic Syndrome
OFD1 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
PAH Phenylketonuria-PKU
PALB2 PALB2-Related Cancer
PCDH15 Usher Syndrome Type 1F (part of Ashkenazi Jewish FlexPanel),
Usher Syndrome Type 1F
PCSK9 Familial Hypercholesterolemia AMPLIFIED
PDCD10 Cerebral Cavernous Malformations (CCM)
PEX1 Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease
PEX7 Rhizomelic Chondrodysplasia Punctata
PHOX2B Congenital Central Hypoventilation Syndrome
PKHD1 Polycystic Kidney Disease, Autosomal Recessive
PMM2 Congenital Disorder of Glycosylation-Ia
PMS2 HNPCC / Lynch syndrome DNA Analysis,
HNPCC / Lynch Syndrome Tumor Testing
POMGNT1 Muscle-Eye-Brain Disease
PPT1 PPT1-Related Neuronal Ceroid-Lipofuscinosis
PQBP1 PQBP1-Related XLMR
PRSS1 Pancreatitis (PRSS1, SPINK1, CFTR sequence),
Pancreatitis AMPLIFIED (CFTR, PRSS1, SPINK1 with CFTR del/dup),
Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence),
Pancreatitis, PRSS1-Related
PTEN PTEN-Related Disorders (including Autism Spectrum Disorder)
PTPN11 LEOPARD Syndrome,
Noonan Syndrome and Noonan/LEOPARD Syndrome
RAF1 LEOPARD Syndrome,
Noonan Syndrome and Noonan/LEOPARD Syndrome
RB1 Retinoblastoma
RET Multiple Endocrine Neoplasia Type 2 (MEN2),
RET-Related Hirschsprung Disease
RMRP Cartilage-Hair Hypoplasia
RPGR Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
RPL11 Diamond-Blackfan Anemia
RPL19 Diamond-Blackfan Anemia
RPL26 Diamond-Blackfan Anemia
RPL35A Diamond-Blackfan Anemia
RPL5 Diamond-Blackfan Anemia
RPS10 Diamond-Blackfan Anemia
RPS17 Diamond-Blackfan Anemia
RPS19 Diamond-Blackfan Anemia
RPS24 Diamond-Blackfan Anemia
RPS26 Diamond-Blackfan Anemia
RPS7 Diamond-Blackfan Anemia
RSPH4A Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
RSPH9 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
SACS Spastic ataxia, Charlevoix-Saguenay type
SBDS Shwachman-Diamond Syndrome
SDHAF2 PGL-PCC, SDHAF2-Related
SDHB PGL-PCC, SDHB-Related
SDHC PGL-PCC, SDHC-Related
SERPINA1 Alpha-1-Antitrypsin Deficiency
SERPING1 HAE AMPLIFIED (SERPING1)
SFTPB Surfactant Dysfunction,
Surfactant Protein B
SFTPC Surfactant Dysfunction
SLC12A6 Andermann Syndrome
SLC16A2/MCT8 SLC16A2-Related XLMR
SLC17A5 Salla Disease
SLC22A5 Carnitine Uptake Defect
SLC25A15 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
SLC26A2 Achondrogenesis Type 1B ,
Atelosteogenesis Type II ,
Diastrophic Dysplasia ,
Multiple Epiphyseal Dysplasia, Recessive
SLC2A10 SLC2A10
SLC37A4 Glycogen Storage Disease Types 1A & 1B
SLC9A6 Angelman-like Syndrome, X-Linked
SMAD3 SMAD3
SMAD4 HHT AMPLIFIED™ & SMAD4-Related HHT ,
Juvenile Polyposis AMPLIFIED™
SMPD1 Niemann-Pick Disease Types A & B,
Niemann-Pick Disease Type A (part of Ashkenazi Jewish Panel)
SNRPN Angelman Syndrome,
Prader-Willi Syndrome SNRPN Methylation Analysis
SOD1 Amyotrophic Lateral Sclerosis (ALS)
SOS1 Noonan Syndrome and Noonan/LEOPARD Syndrome
SPINK1 Pancreatitis (PRSS1, SPINK1, CFTR sequence),
Pancreatitis AMPLIFIED (CFTR, PRSS1, SPINK1 with CFTR del/dup),
Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence)
STK11 Peutz-Jeghers AMPLIFIED™
SYP SYP-Related XLMR
TARDBP Amyotrophic Lateral Sclerosis (ALS)
TERC Dyskeratosis Congenita,
Idiopathic Pulmonary Fibrosis (IPF Telomerase)
TERT Dyskeratosis Congenita,
Idiopathic Pulmonary Fibrosis (IPF Telomerase)
TGFBR1 TGFBR1
TGFBR2 TGFBR2
TINF2 Dyskeratosis Congenita
TMEM127 Familial Pheochromocytoma, TMEM127-Related
TMEM216 Joubert Syndrome (part of Ashkenazi Jewish FlexPanel),
Joubert Syndrome
TP53 Li-Fraumeni Syndrome (TP53 AMPLIFIED)
TPP1 TPP1-Related Neuronal Ceroid-Lipofuscinosis
TTR Transthyretin Amyloidosis
TXNDC3 Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
UBE3A Angelman Syndrome
UPF3B UPF3B-Related XLMR
USH1F Usher Syndrome Type 1F
USH3 Usher Syndrome Type III
VHL Von Hippel-Lindau Disease
WRAP53 Dyskeratosis Congenita
ZNF711 ZNF711-Related XLMR
ZNF81 ZNF81-Related XLMR