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Tests > by Gene > A

AAAS

Ataxia Exome
Epilepsy Exome

AARS

Dystonia Exome

AARS1

Early Infantile Epileptic Encephalopathy (EIEE) Panel

AARS2

Ataxia Exome
Dystonia Exome
Premature Ovarian Failure Panel

AASS

Epilepsy Exome

ABAT

Epilepsy Exome

ABCA1

Dyslipidemia Panel

ABCB11

Liver Disease Panel

ABCB4

Liver Disease Panel

ABCB7

Ataxia Exome

ABCC2

Liver Disease Panel

ABCC8

Comprehensive Neonatal Diabetes Mutation Analysis
Epilepsy Exome
Hyperinsulinism Panel
MODY Panel
Monogenic Diabetes Panel
Neonatal Diabetes Panel
Single Gene Analysis
Targeted Analysis
Targeted Analysis
Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism

ABCD1

Ataxia Exome
Epilepsy Exome
Targeted Analysis

ABCG5

Dyslipidemia Panel
Hypercholesterolemia Panel
Single Gene Analysis
Thrombocytopenia Panel

ABCG8

Dyslipidemia Panel
Hypercholesterolemia Panel
Single Gene Analysis
Thrombocytopenia Panel

ABHD12

Ataxia Exome

ACADM

Epilepsy Exome

ACADS

Epilepsy Exome

ACADSB

Epilepsy Exome

ACD

Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Hereditary Melanoma Panel
Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel
Single Gene Analysis
Telomere Biology Disorder/Dyskeratosis Congenita Panel

ACER3

Dystonia Exome

ACO2

Ataxia Exome
Epilepsy Exome

ACOX1

Epilepsy Exome

ACSF3

Epilepsy Exome

ACSL4

Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis
X-Linked Non-Specific Intellectual Disability Panel

ACTA1

Congenital Myopathy Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

ACTB

Comprehensive Brain Malformation Panel
Epilepsy Exome
Single Gene Analysis
Targeted Analysis

ACTG1

Comprehensive Brain Malformation Panel
Epilepsy Exome
Single Gene Analysis
Targeted Analysis

ACTL6B

Early Infantile Epileptic Encephalopathy (EIEE) Panel

ACTN1

Single Gene Analysis
Thrombocytopenia Panel

ACTN2

Congenital Myopathy Panel
Neuromuscular Disorders Panel

ACTN4

Hereditary Cystic and Glomerular Disorders Panel

ACVR1

Epilepsy Exome

ACVRL1

Hereditary Hemorrhagic Telangiectasia (HHT) Panel
Single Gene Analysis

ACY1

Dystonia Exome
Epilepsy Exome

ADA

Digestive Disease Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Single Gene Analysis
Targeted Analysis

ADA2

Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel

ADAM17

Digestive Disease Panel

ADAM22

Early Infantile Epileptic Encephalopathy (EIEE) Panel

ADAMTS13

Single Gene Analysis
Thrombocytopenia Panel

ADAR

Dystonia Exome
Epilepsy Exome

ADARB1

Early Infantile Epileptic Encephalopathy (EIEE) Panel
Microcephaly Panel

ADAT3

Autosomal Recessive Non-Specific Intellectual Disability Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

ADCK3

Ataxia Exome
Epilepsy Exome

ADCY10

Hereditary Tubulopathy and Nephrolithiasis Panel

ADCY3

Monogenic Obesity Panel
Non-Syndromic Monogenic Obesity Panel

ADCY5

Dystonia Exome

ADGRG1

Comprehensive Brain Malformation Panel

ADGRG2

Male Infertility Panel

ADK

Epilepsy Exome

ADNP

Coffin Siris Syndrome Panel
Cornelia de Lange and Related Disorders Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

ADRA2A

Lipodystrophy Panel

ADRA2B

Epilepsy Exome

ADSL

Ataxia Exome
Epilepsy Exome
Rett/Angelman Syndrome Panel
Single Gene Analysis
Targeted Analysis

AFF2

Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis
X-Linked Non-Specific Intellectual Disability Panel

AFF4

Cornelia de Lange and Related Disorders Panel
Monogenic Obesity Panel
Single Gene Analysis

AFG3L2

Ataxia Exome
Dystonia Exome
Epilepsy Exome

AGA

Epilepsy Exome

AGMO

Microcephaly Panel

AGPAT2

Lipodystrophy Panel
Single Gene Analysis
Targeted Analysis

AGPS

Rhizomelic Chondrodysplasia Punctata Panel
Targeted Analysis

AGRN

Congenital Myasthenic Syndrome Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

AGTR2

Epilepsy Exome
Targeted Analysis

AGXT

Hereditary Tubulopathy and Nephrolithiasis Panel

AHDC1

Non-Specific Intellectual Disability Panel

AHI1

Ataxia Exome
Epilepsy Exome
Hereditary Cystic and Glomerular Disorders Panel
Joubert/Meckel Gruber Syndrome Panel
Nephronophthisis Panel
Single Gene Analysis
Targeted Analysis

AICDA

Digestive Disease Panel

AIFM1

Epilepsy Exome

AIMP1

Comprehensive Brain Malformation Panel
Epilepsy Exome

AIP

Comprehensive Hereditary Cancer Panel

AIRE

Comprehensive Neonatal Diabetes Mutation Analysis
Female Infertility panel
Hypoparathyroidism Panel
Male Infertility Panel
Monogenic Diabetes Panel
Neonatal Diabetes Panel
Premature Ovarian Failure Panel
Single Gene Analysis

AKR1C2

46,XY Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
Ambiguous Genitalia Panel
Single Gene Analysis
Targeted Analysis

AKR1C4

Male Infertility Panel

AKR1D1

Liver Disease Panel

AKT1

Hereditary Thyroid Cancer Panel
Macrocephaly Panel
Single Gene Analysis

AKT2

Epilepsy Exome
Hyperinsulinism Panel
Lipodystrophy Panel
Macrocephaly Panel
Macrocephaly Panel
Monogenic Diabetes Panel
Single Gene Analysis
Targeted Analysis

AKT3

Comprehensive Brain Malformation Panel
Epilepsy Exome
Hydrocephalus Panel
Macrocephaly Panel
Single Gene Analysis
Targeted Analysis

ALAS2

Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel
Single Gene Analysis

ALDH18A1

Ataxia Exome
Epilepsy Exome

ALDH3A2

Epilepsy Exome

ALDH4A1

Epilepsy Exome

ALDH5A1

Ataxia Exome
Autosomal Recessive Non-Specific Intellectual Disability Panel
Epilepsy Exome
Non-Specific Intellectual Disability Panel
Rett/Angelman Syndrome Panel
Single Gene Analysis
Targeted Analysis

ALDH7A1

Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome
Single Gene Analysis
Targeted Analysis

ALG1

Epilepsy Exome

ALG11

Epilepsy Exome

ALG13

Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome
Single Gene Analysis

ALG14

Congenital Myasthenic Syndrome Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

ALG2

Congenital Myasthenic Syndrome Panel
Epilepsy Exome
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

ALG3

Epilepsy Exome

ALG6

Ataxia Exome
Autosomal Recessive Non-Specific Intellectual Disability Panel
Epilepsy Exome
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

ALG8

Hereditary Cystic and Glomerular Disorders Panel

ALG9

Epilepsy Exome
Hereditary Cystic and Glomerular Disorders Panel

ALK

Comprehensive Hereditary Cancer Panel

ALMS1

Epilepsy Exome
Monogenic Obesity Panel
Single Gene Analysis
Targeted Analysis

ALPI

Digestive Disease Panel

ALPL

Hereditary Tubulopathy and Nephrolithiasis Panel
Hypophosphatemic Rickets Panel
Single Gene Analysis

ALS2

Ataxia Exome
Dystonia Exome

ALX1

Craniofacial Panel
Facial Dysostosis Panel
Single Gene Analysis
Targeted Analysis

ALX3

Craniofacial Panel
Facial Dysostosis Panel
Single Gene Analysis
Targeted Analysis

ALX4

Craniofacial Panel
Facial Dysostosis Panel
Single Gene Analysis
Targeted Analysis

AMACR

Ataxia Exome
Epilepsy Exome

AMER1

Epilepsy Exome

AMH

46,XY Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
Ambiguous Genitalia Panel
Female Infertility panel
Male Infertility Panel
Single Gene Analysis
Targeted Analysis

AMHR2

46,XY Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
Ambiguous Genitalia Panel
Female Infertility panel
Male Infertility Panel
Single Gene Analysis
Targeted Analysis

AMPD2

Comprehensive Brain Malformation Panel
Microcephaly Panel
Single Gene Analysis
Targeted Analysis

AMT

Epilepsy Exome

ANGPTL3

Dyslipidemia Panel

ANK3

Autosomal Recessive Non-Specific Intellectual Disability Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

ANKLE2

Microcephaly Panel

ANKRD11

Coffin Siris Syndrome Panel
Cornelia de Lange and Related Disorders Panel
Epilepsy Exome
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

ANKRD26

Comprehensive Hereditary Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Leukemia and Breast Cancer Panel
Hereditary Myeloid Malignancy Panel
Single Gene Analysis
Targeted Analysis
Thrombocytopenia Panel

ANKS6

Hereditary Cystic and Glomerular Disorders Panel
Nephronophthisis Panel
Single Gene Analysis

ANLN

Hereditary Cystic and Glomerular Disorders Panel

ANO10

Ataxia Exome

ANO3

Dystonia Exome

ANO5

Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

ANOS1

Female Infertility panel
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Male Infertility Panel

AP1S2

Ataxia Exome
Hydrocephalus Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis
X-Linked Non-Specific Intellectual Disability Panel

AP2S1

Hereditary Tubulopathy and Nephrolithiasis Panel
Hyperparathyroidism Panel
Hypoparathyroidism Panel
Single Gene Analysis

AP3B1

Albinism Panel
Single Gene Analysis
Targeted Analysis

AP3B2

Early Infantile Epileptic Encephalopathy (EIEE) Panel

AP3D1

Albinism Panel

AP4B1

Ataxia Exome
Autosomal Recessive Non-Specific Intellectual Disability Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

AP4E1

Ataxia Exome
Autosomal Recessive Non-Specific Intellectual Disability Panel
Epilepsy Exome
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

AP4M1

Ataxia Exome
Autosomal Recessive Non-Specific Intellectual Disability Panel
Microcephaly Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

AP4S1

Ataxia Exome
Autosomal Recessive Non-Specific Intellectual Disability Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

AP4S1 ARFGEF2

Targeted Analysis

AP5Z1

Ataxia Exome

APC

Comprehensive Hereditary Cancer Panel
Hereditary Colorectal Cancer Panel
Hereditary Gastric Cancer Panel
Hereditary Thyroid Cancer Panel
Mesothelioma Panel
Single Gene Analysis
Targeted Analysis

APC2

Comprehensive Brain Malformation Panel

APOA1

Comprehensive Hereditary Cancer Panel
Dyslipidemia Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel

APOA1BP (NAXE)

Ataxia Exome

APOA2

Comprehensive Hereditary Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel

APOA5

Dyslipidemia Panel

APOB

Ataxia Exome
Dyslipidemia Panel
Hypercholesterolemia Panel

APOC2

Dyslipidemia Panel

APOC3

Dyslipidemia Panel

APOE

Dyslipidemia Panel

APOL1

Hereditary Cystic and Glomerular Disorders Panel

APOPT1

Ataxia Exome

APPL1

MODY Panel
Monogenic Diabetes Panel

APRT

Hereditary Tubulopathy and Nephrolithiasis Panel

APTX

Ataxia Exome
Dystonia Exome

AQP2

Hereditary Tubulopathy and Nephrolithiasis Panel

AR

46,XY Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
Ambiguous Genitalia Panel
Female Infertility panel
Male Infertility Panel
Single Gene Analysis
Targeted Analysis

ARFGEF2

Autosomal Recessive Non-Specific Intellectual Disability Panel
Comprehensive Brain Malformation Panel
Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome
Microcephaly Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

ARG1

Epilepsy Exome

ARGGEF15

Targeted Analysis

ARHGEF15

Epilepsy Exome
Single Gene Analysis
Targeted Analysis

ARHGEF6

Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis
X-Linked Non-Specific Intellectual Disability Panel

ARHGEF9

Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis
X-Linked Non-Specific Intellectual Disability Panel

ARID1A

Coffin Siris Syndrome Panel
Comprehensive Hereditary Cancer Panel
Cornelia de Lange and Related Disorders Panel
Epilepsy Exome
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

ARID1B

Coffin Siris Syndrome Panel
Cornelia de Lange and Related Disorders Panel
Epilepsy Exome
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

ARID2

Coffin Siris Syndrome Panel

ARL13B

Ataxia Exome
Epilepsy Exome
Hereditary Cystic and Glomerular Disorders Panel
Joubert/Meckel Gruber Syndrome Panel
Single Gene Analysis
Targeted Analysis

ARL3.00

Joubert/Meckel Gruber Syndrome Panel

ARL6

Bardet-Biedl Syndrome Panel
Hereditary Cystic and Glomerular Disorders Panel
Monogenic Obesity Panel
Single Gene Analysis
Targeted Analysis

ARL6IP1

Ataxia Exome

ARMC9

Ataxia Exome
Joubert/Meckel Gruber Syndrome Panel

ARSA

Ataxia Exome
Dystonia Exome
Epilepsy Exome

ARSE

Rhizomelic Chondrodysplasia Punctata Panel
Targeted Analysis

ARV1

Ataxia Exome
Early Infantile Epileptic Encephalopathy (EIEE) Panel

ARX

46,XY Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
Ambiguous Genitalia Panel
Ataxia Exome
Comprehensive Brain Malformation Panel
Dystonia Exome
Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome
Non-Specific Intellectual Disability Panel
Rett/Angelman Syndrome Panel
Single Gene Analysis
Targeted Analysis
X-Linked Non-Specific Intellectual Disability Panel

ASAH1

Epilepsy Exome

ASL

Ataxia Exome
Epilepsy Exome

ASNS

Comprehensive Brain Malformation Panel
Epilepsy Exome
Single Gene Analysis

ASPA

Epilepsy Exome
Macrocephaly Panel

ASPM

Comprehensive Brain Malformation Panel
Microcephaly Panel
Single Gene Analysis
Targeted Analysis

ASS1

Ataxia Exome
Epilepsy Exome

ASXL1

Cornelia de Lange and Related Disorders Panel
Epilepsy Exome
Microcephaly Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis

ASXL2

Macrocephaly Panel

ASXL3

Microcephaly Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

ATAD3A

Comprehensive Brain Malformation Panel

ATCAY

Ataxia Exome

ATG2B

Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Myeloid Malignancy Panel

ATG5

Ataxia Exome

ATIC

Epilepsy Exome

ATL1

Ataxia Exome

ATM

Ataxia Exome
Comprehensive Hereditary Cancer Panel
Dystonia Exome
Female Infertility panel
Hereditary Breast and Ovarian Cancer Panel
Hereditary Colorectal Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Leukemia and Breast Cancer Panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Hereditary Myeloid Malignancy Panel
Hereditary Prostate Cancer Panel
Male Infertility Panel
Mesothelioma Panel
Single Gene Analysis
Targeted Analysis

ATN1

Ataxia Repeat Expansion Panel
Comprehensive Ataxia Testing (Concurrent testing option)
Comprehensive Ataxia Testing (Reflex testing option)
Epilepsy Exome
Single Gene Repeat Expansion Analysis

ATP13A2

Ataxia Exome
Dystonia Exome
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel
Neuronal Ceroid-Lipofuscinoses Panel
Single Gene Analysis
Targeted Analysis

ATP1A2

Ataxia Exome
Dystonia Exome
Epilepsy Exome
Single Gene Analysis
Targeted Analysis

ATP1A3

Ataxia Exome
Dystonia Exome
Epilepsy Exome
Single Gene Analysis
Targeted Analysis

ATP2A1

Neuromuscular Disorders Panel

ATP2B3

Ataxia Exome

ATP6AP2

Epilepsy Exome
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis
X-Linked Non-Specific Intellectual Disability Panel

ATP6V0A2

Comprehensive Brain Malformation Panel
Epilepsy Exome
Single Gene Analysis
Targeted Analysis

ATP6V0A4

Hereditary Tubulopathy and Nephrolithiasis Panel

ATP6V1B1

Hereditary Tubulopathy and Nephrolithiasis Panel

ATP6VOA2

Targeted Analysis

ATP7A

Epilepsy Exome
Single Gene Analysis
Targeted Analysis

ATP7B

Ataxia Exome
Dystonia Exome
Single Gene Analysis
Targeted Analysis

ATP8A2

Ataxia Exome

ATP8B1

Liver Disease Panel

ATPAF2

Ataxia Exome

ATR

Microcephaly Panel
Primordial Dwarfism Panel
Single Gene Analysis
Targeted Analysis

ATRX

46,XY Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
Ambiguous Genitalia Panel
Epilepsy Exome
Male Infertility Panel
Microcephaly Panel
Non-Specific Intellectual Disability Panel
Rett/Angelman Syndrome Panel
Single Gene Analysis
Targeted Analysis
X-Linked Non-Specific Intellectual Disability Panel

ATXN1

Ataxia Repeat Expansion Panel
Comprehensive Ataxia Testing (Concurrent testing option)
Comprehensive Ataxia Testing (Reflex testing option)
Single Gene Repeat Expansion Analysis

ATXN10

Ataxia Repeat Expansion Panel
Comprehensive Ataxia Testing (Concurrent testing option)
Comprehensive Ataxia Testing (Reflex testing option)
Epilepsy Exome
Single Gene Repeat Expansion Analysis

ATXN2

Ataxia Repeat Expansion Panel
Comprehensive Ataxia Testing (Concurrent testing option)
Comprehensive Ataxia Testing (Reflex testing option)
Single Gene Repeat Expansion Analysis

ATXN3

Ataxia Repeat Expansion Panel
Comprehensive Ataxia Testing (Concurrent testing option)
Comprehensive Ataxia Testing (Reflex testing option)
Single Gene Repeat Expansion Analysis

ATXN7

Ataxia Repeat Expansion Panel
Comprehensive Ataxia Testing (Concurrent testing option)
Comprehensive Ataxia Testing (Reflex testing option)
Single Gene Repeat Expansion Analysis

ATXN8OS

Ataxia Repeat Expansion Panel
Comprehensive Ataxia Testing (Concurrent testing option)
Comprehensive Ataxia Testing (Reflex testing option)
Single Gene Repeat Expansion Analysis

AUH

Ataxia Exome
Dystonia Exome
Epilepsy Exome

AURKC

Male Infertility Panel

AUTS2

Non-Specific Intellectual Disability Panel

AVPR2

Epilepsy Exome
Hereditary Tubulopathy and Nephrolithiasis Panel

AXIN2

Comprehensive Hereditary Cancer Panel
Hereditary Colorectal Cancer Panel
Single Gene Analysis

AXL

Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Male Infertility Panel