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Tests > by Gene > C

C10ORF11

Albinism Panel
Single Gene Analysis
Targeted Analysis

C10ORF2

Ataxia Exome
Epilepsy Exome
Premature Ovarian Failure Panel

C12orf57

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

C12orf65

Ataxia Exome

C16orf57

Targeted Analysis

C19orf12

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

C3

Atypical Hemolytic Uremic Syndromes Panel
Hereditary Cystic and Glomerular Disorders Panel
Single Gene Analysis
Thrombocytopenia Panel

C5

Hereditary Cystic and Glomerular Disorders Panel

C5orf42

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

C8orf37

Bardet-Biedl Syndrome Panel
Monogenic Obesity Panel

CA2

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Hereditary Tubulopathy and Nephrolithiasis Panel

CA8

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

CACNA1A

Ataxia Exome
Ataxia Repeat Expansion Panel
Comprehensive Ataxia Testing (Concurrent testing option)
Comprehensive Ataxia Testing (Reflex testing option)
Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome
Non-Specific Intellectual Disability Panel
Single Gene Repeat Expansion Analysis

CACNA1C

Arrhythmia and Cardiomyopathy Comprehensive Panel
Arrhythmia Comprehensive Panel
Cardiomyopathy Comprehensive Panel
Hypertrophic Cardiomyopathy Panel
Long QT Syndrome Panel

CACNA1D

Arrhythmia and Cardiomyopathy Comprehensive Panel
Arrhythmia Comprehensive Panel
Epilepsy Exome
Hyperinsulinism Panel

CACNA1E

Early Infantile Epileptic Encephalopathy (EIEE) Panel

CACNA1G

Ataxia Exome

CACNA2D2

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

CACNB4

Ataxia Exome
Epilepsy Exome
Targeted Analysis

CACNG2

Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

CAD

Early Infantile Epileptic Encephalopathy (EIEE) Panel

CALM1

Arrhythmia and Cardiomyopathy Comprehensive Panel
Arrhythmia Comprehensive Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Panel
Long QT Syndrome Panel

CALM2

Arrhythmia and Cardiomyopathy Comprehensive Panel
Arrhythmia Comprehensive Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Panel
Long QT Syndrome Panel

CALM3

Arrhythmia and Cardiomyopathy Comprehensive Panel
Arrhythmia Comprehensive Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Panel
Long QT Syndrome Panel

CAMTA1

Ataxia Exome

CAPN1

Ataxia Exome

CAPN3

Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

CARD11

Comprehensive Hereditary Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Single Gene Analysis
Targeted Analysis

CARMIL2

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

CARS1

Microcephaly Panel

CASC5

Microcephaly Panel
Single Gene Analysis
Targeted Analysis

CASK

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

CASK OPHN1

Targeted Analysis

CASP10

Comprehensive Hereditary Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Single Gene Analysis

CASP8

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

CASQ2

Arrhythmia and Cardiomyopathy Comprehensive Panel
Arrhythmia Comprehensive Panel
Catecholaminergic Polymorphic Ventricular Tachycardia Panel
Epilepsy Exome

CASR

Comprehensive Hereditary Cancer Panel
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Epilepsy Exome
Hereditary Tubulopathy and Nephrolithiasis Panel
Hyperparathyroidism Panel
Hypoparathyroidism Panel
Single Gene Analysis

CASZ1

Congenital Heart Disease Panel

CATSPER1

Male Infertility Panel

CAV1

Ataxia Exome
Congenital Heart Disease Panel
Lipodystrophy Panel
Single Gene Analysis
Targeted Analysis

CAV3

Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

CAVIN1

Lipodystrophy Panel

CBL

Arrhythmia and Cardiomyopathy Comprehensive Panel
Cardiomyopathy Comprehensive Panel
Comprehensive Hereditary Cancer Panel
Congenital Heart Disease Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Leukemia and Breast Cancer Panel
Hereditary Myeloid Malignancy Panel
Noonan Syndrome Panel
RASopathies and Noonan Spectrum Disorders Panel
Single Gene Analysis
Targeted Analysis

CBS

Aortopathy Comprehensive Panel
Dystonia Exome
Epilepsy Exome

CBX2

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

CC2D1A

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

CC2D2A

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

CCBE1

Epilepsy Exome

CCDC141

Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel

CCDC22

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

CCDC39

Male Infertility Panel

CCDC78

Congenital Myopathy Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

CCDC8

Primordial Dwarfism Panel

CCDC88A

Microcephaly Panel

CCDC88C

Epilepsy Exome
Hydrocephalus Panel
Single Gene Analysis
Targeted Analysis

CCM2

Epilepsy Exome

CCND2

Comprehensive Brain Malformation Panel
Hydrocephalus Panel
Macrocephaly Panel
Single Gene Analysis

CD19

Thrombocytopenia Panel

CD27

Comprehensive Hereditary Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Single Gene Analysis

CD2AP

Hereditary Tubulopathy and Nephrolithiasis Panel
Hereditary Cystic and Glomerular Disorders Panel

CD36

Thrombocytopenia Panel

CD3G

Digestive Disease Panel

CD40

Inherited Bone Marrow Failure Panel

CD40LG

Comprehensive Hereditary Cancer Panel
Digestive Disease Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Inherited Bone Marrow Failure Panel

CD46

Atypical Hemolytic Uremic Syndromes Panel
Hereditary Cystic and Glomerular Disorders Panel
Single Gene Analysis
Thrombocytopenia Panel

CD55

Digestive Disease Panel

CD59

Hereditary Cystic and Glomerular Disorders Panel

CD70

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

CD81

Thrombocytopenia Panel

CD96

Craniofacial Panel

CDC42

Thrombocytopenia Panel

CDC45

Craniofacial Panel
Primordial Dwarfism Panel

CDC6

Microcephaly Panel
Primordial Dwarfism Panel
Single Gene Analysis
Targeted Analysis

CDC73

Comprehensive Hereditary Cancer Panel
Hyperparathyroidism Panel
Single Gene Analysis

CDH1

Comprehensive Hereditary Cancer Panel
Hereditary Breast and Ovarian Cancer Panel
Hereditary Colorectal Cancer Panel
Hereditary Gastric Cancer Panel
Hereditary Leukemia and Breast Cancer Panel
Single Gene Analysis
Targeted Analysis

CDH15

Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

CDH2

Arrhythmia and Cardiomyopathy Comprehensive Panel
Arrhythmia Comprehensive Panel
Arrhythmogenic Cardiomyopathy Panel

CDIN1

Inherited Bone Marrow Failure Panel

CDK13

Comprehensive Brain Malformation Panel

CDK19

Early Infantile Epileptic Encephalopathy (EIEE) Panel

CDK4

Comprehensive Hereditary Cancer Panel
Hereditary Melanoma Panel
Single Gene Analysis
Targeted Analysis

CDK5

Comprehensive Brain Malformation Panel
Single Gene Analysis

CDK5RAP2

Microcephaly Panel
Primordial Dwarfism Panel
Single Gene Analysis
Targeted Analysis

CDK6

Microcephaly Panel
Single Gene Analysis
Targeted Analysis

CDKL5

Ataxia Exome
Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome
Microcephaly Panel
Non-Specific Intellectual Disability Panel
Rett/Angelman Syndrome Panel
Single Gene Analysis
Targeted Analysis
X-Linked Non-Specific Intellectual Disability Panel

CDKN1B

Comprehensive Hereditary Cancer Panel
Hyperparathyroidism Panel
Single Gene Analysis

CDKN1C

Ambiguous Genitalia Panel
Comprehensive Hereditary Cancer Panel
IMAGe Syndrome/Beckwith-Wiedemann Syndrome Testing (CDKN1C)
Macrocephaly Panel
Monogenic Diabetes Panel
Single Gene Analysis
Targeted Analysis

CDKN2A

Comprehensive Hereditary Cancer Panel
Hereditary Melanoma Panel
Mesothelioma Panel
Single Gene Analysis
Targeted Analysis

CDON

Holoprosencephaly Panel
Single Gene Analysis
Targeted Analysis

CDT1

Craniofacial Panel
Microcephaly Panel
Primordial Dwarfism Panel
Single Gene Analysis
Targeted Analysis

CEBPA

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

CEBPE

Inherited Bone Marrow Failure Panel

CEL

MODY Panel
Monogenic Diabetes Panel
Single Gene Analysis
Targeted Analysis

CENPE

Microcephaly Panel
Single Gene Analysis

CENPF

Microcephaly Panel
Single Gene Analysis

CENPJ

Microcephaly Panel
Primordial Dwarfism Panel
Single Gene Analysis
Targeted Analysis

CEP104

Ataxia Exome
Hereditary Cystic and Glomerular Disorders Panel
Joubert/Meckel Gruber Syndrome Panel

CEP120

Ataxia Exome
Hereditary Cystic and Glomerular Disorders Panel
Joubert/Meckel Gruber Syndrome Panel

CEP135

Microcephaly Panel
Single Gene Analysis
Targeted Analysis

CEP152

Microcephaly Panel
Primordial Dwarfism Panel
Single Gene Analysis
Targeted Analysis

CEP164

Hereditary Cystic and Glomerular Disorders Panel
Monogenic Obesity Panel
Nephronophthisis Panel
Single Gene Analysis

CEP19

Monogenic Obesity Panel
Non-Syndromic Monogenic Obesity Panel

CEP290

Ataxia Exome
Bardet-Biedl Syndrome Panel
Epilepsy Exome
Hereditary Cystic and Glomerular Disorders Panel
Joubert/Meckel Gruber Syndrome Panel
Meckel-Gruber Syndrome Panel
Monogenic Obesity Panel
Nephronophthisis Panel
Single Gene Analysis
Targeted Analysis

CEP41

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

CEP55

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Joubert/Meckel Gruber Syndrome Panel
Meckel-Gruber Syndrome Panel

CEP63

Microcephaly Panel
Primordial Dwarfism Panel
Single Gene Analysis
Targeted Analysis

CEP83

Hereditary Cystic and Glomerular Disorders Panel
Nephronophthisis Panel
Single Gene Analysis

CEP85L

Comprehensive Brain Malformation Panel

CETN2

Targeted Analysis

CETP

Dyslipidemia Panel

CFAP298

Male Infertility Panel

CFAP43

Male Infertility Panel

CFAP44

Male Infertility Panel

CFAP58

Male Infertility Panel

CFAP65

Male Infertility Panel

CFB

Atypical Hemolytic Uremic Syndromes Panel
Hereditary Cystic and Glomerular Disorders Panel
Single Gene Analysis
Thrombocytopenia Panel

CFH

Atypical Hemolytic Uremic Syndromes Panel
Hereditary Cystic and Glomerular Disorders Panel
Single Gene Analysis
Thrombocytopenia Panel

CFHR1

Hereditary Cystic and Glomerular Disorders Panel
Single Gene Analysis

CFHR2

Hereditary Cystic and Glomerular Disorders Panel

CFHR3

Hereditary Cystic and Glomerular Disorders Panel
Single Gene Analysis

CFHR4

Hereditary Cystic and Glomerular Disorders Panel
Single Gene Analysis
Thrombocytopenia Panel

CFHR5

Hereditary Cystic and Glomerular Disorders Panel
Single Gene Analysis
Thrombocytopenia Panel

CFI

Atypical Hemolytic Uremic Syndromes Panel
Hereditary Cystic and Glomerular Disorders Panel
Single Gene Analysis
Thrombocytopenia Panel

CFL2

Congenital Myopathy Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

CFTR

Liver Disease Panel
Male Infertility Panel
Single Gene Analysis

CHAMP1

Ataxia Exome

CHAT

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

CHCHD10

Ataxia Exome

CHD2

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

CHD4

Ambiguous Genitalia Panel
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Macrocephaly Panel

CHD7

Ambiguous Genitalia Panel
CHARGE Syndrome Testing (CHD7)
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Congenital Heart Disease Panel
Craniofacial Panel
Facial Dysostosis Panel
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Hypoparathyroidism Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

CHD8

Macrocephaly Panel
Non-Specific Intellectual Disability Panel

CHEK2

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

CHKB

Congenital Muscular Dystrophy Panel
Congenital Myopathy Panel
Epilepsy Exome
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

CHMP1A

Ataxia Exome
Comprehensive Brain Malformation Panel
Single Gene Analysis
Targeted Analysis

CHRM3

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel

CHRNA1

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

CHRNA2

Epilepsy Exome
Targeted Analysis

CHRNA4

Epilepsy Exome
Targeted Analysis

CHRNB1

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

CHRNB2

Epilepsy Exome
Targeted Analysis

CHRND

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

CHRNE

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

CHST14

Distal Arthrogryposes Panel
Ehlers-Danlos Syndrome Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

CIC

Non-Specific Intellectual Disability Panel

CIDEC

Lipodystrophy Panel
Monogenic Diabetes Panel
Single Gene Analysis
Targeted Analysis

CISD2

Comprehensive Neonatal Diabetes Mutation Analysis
Monogenic Diabetes Panel
Neonatal Diabetes Panel
Single Gene Analysis
Targeted Analysis
Wolfram Syndrome Panel

CIT

Comprehensive Brain Malformation Panel
Microcephaly Panel

CKAP2L

Ambiguous Genitalia Panel
Microcephaly Panel

CLCN1

Epilepsy Exome

CLCN2

Ataxia Exome
Epilepsy Exome

CLCN4

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

CLCN5

Hereditary Tubulopathy and Nephrolithiasis Panel
Hypophosphatemic Rickets Panel
Single Gene Analysis

CLCNKA

Hereditary Tubulopathy and Nephrolithiasis Panel

CLCNKB

Hereditary Tubulopathy and Nephrolithiasis Panel

CLDN14

Hereditary Tubulopathy and Nephrolithiasis Panel

CLDN16

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Epilepsy Exome
Hereditary Tubulopathy and Nephrolithiasis Panel

CLDN19

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Hereditary Tubulopathy and Nephrolithiasis Panel

CLIC2

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

CLIP1

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

CLN3

Dystonia Exome
Epilepsy Exome
Neuronal Ceroid-Lipofuscinoses Panel
Single Gene Analysis
Targeted Analysis

CLN5

Ataxia Exome
Dystonia Exome
Epilepsy Exome
Neuronal Ceroid-Lipofuscinoses Panel
Single Gene Analysis
Targeted Analysis

CLN6

Ataxia Exome
Dystonia Exome
Epilepsy Exome
Neuronal Ceroid-Lipofuscinoses Panel
Single Gene Analysis
Targeted Analysis

CLN8

Ataxia Exome
Dystonia Exome
Epilepsy Exome
Neuronal Ceroid-Lipofuscinoses Panel
Single Gene Analysis
Targeted Analysis

CLP1

Comprehensive Brain Malformation Panel

CLPB

Ataxia Exome
Dystonia Exome
Hereditary Tubulopathy and Nephrolithiasis Panel
Hereditary Cystic and Glomerular Disorders Panel
Inherited Bone Marrow Failure Panel

CLPP

Ataxia Exome
Epilepsy Exome
Female Infertility panel
Premature Ovarian Failure Panel

CLTC

Non-Specific Intellectual Disability Panel

CNKSR2

Non-Specific Intellectual Disability Panel

CNNM2

Hereditary Tubulopathy and Nephrolithiasis Panel

CNOT1

Comprehensive Neonatal Diabetes Mutation Analysis
Holoprosencephaly Panel
Monogenic Diabetes Panel
Neonatal Diabetes Panel

CNPY3

Early Infantile Epileptic Encephalopathy (EIEE) Panel

CNTN1

Congenital Myopathy Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

CNTN2

Epilepsy Exome

CNTNAP2

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

COA5

Ataxia Exome
Epilepsy Exome

COASY

Comprehensive Brain Malformation Panel
Dystonia Exome
Microcephaly Panel
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel
Single Gene Analysis

COG4

Ataxia Exome
Epilepsy Exome

COG6

Epilepsy Exome

COG8

Epilepsy Exome

COL12A1

Congenital Myopathy Panel
Ehlers-Danlos Syndrome Panel
Neuromuscular Disorders Panel
Single Gene Analysis

COL13A1

Congenital Myasthenic Syndrome Panel
Neuromuscular Disorders Panel
Single Gene Analysis

COL18A1

Ataxia Exome
Comprehensive Brain Malformation Panel

COL1A1

Ehlers-Danlos Syndrome Panel

COL1A2

Ehlers-Danlos Syndrome Panel

COL3A1

Aortopathy Comprehensive Panel
Comprehensive Brain Malformation Panel
Ehlers-Danlos Syndrome Panel

COL4A1

Comprehensive Brain Malformation Panel
Dystonia Exome
Epilepsy Exome
Hereditary Cystic and Glomerular Disorders Panel
Targeted Analysis

COL4A2

Epilepsy Exome

COL4A3

Hereditary Cystic and Glomerular Disorders Panel

COL4A4

Hereditary Cystic and Glomerular Disorders Panel

COL4A5

Hereditary Cystic and Glomerular Disorders Panel

COL5A1

Aortopathy Comprehensive Panel
Ehlers-Danlos Syndrome Panel

COL5A2

Aortopathy Comprehensive Panel
Ehlers-Danlos Syndrome Panel

COL6A1

Congenital Muscular Dystrophy Panel
Congenital Myopathy Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

COL6A2

Congenital Muscular Dystrophy Panel
Congenital Myopathy Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

COL6A3

Congenital Muscular Dystrophy Panel
Congenital Myopathy Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

COLEC11

Craniofacial Panel

COLQ

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

COQ2

Ataxia Exome
Epilepsy Exome
Hereditary Cystic and Glomerular Disorders Panel

COQ4

Ataxia Exome

COQ6

Ataxia Exome
Hereditary Cystic and Glomerular Disorders Panel

COQ8A

Dystonia Exome

COQ8B

Hereditary Cystic and Glomerular Disorders Panel

COQ9

Ataxia Exome
Epilepsy Exome
Hereditary Tubulopathy and Nephrolithiasis Panel

COX10

Ataxia Exome
Dystonia Exome
Epilepsy Exome
Hereditary Tubulopathy and Nephrolithiasis Panel

COX14

Ataxia Exome
Epilepsy Exome

COX15

Ataxia Exome
Dystonia Exome
Epilepsy Exome

COX20

Ataxia Exome
Dystonia Exome
Epilepsy Exome

COX6B1

Ataxia Exome
Epilepsy Exome

CP

Ataxia Exome
Dystonia Exome
Monogenic Diabetes Panel
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel
Single Gene Analysis
Targeted Analysis

CPA6

Epilepsy Exome
Targeted Analysis

CPE

Monogenic Obesity Panel

CPLX1

Early Infantile Epileptic Encephalopathy (EIEE) Panel

CPS1

Ataxia Exome
Epilepsy Exome

CPT1C

Ataxia Exome

CPT2

Arrhythmia and Cardiomyopathy Comprehensive Panel
Cardiomyopathy Comprehensive Panel
Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel
Epilepsy Exome
Hypertrophic Cardiomyopathy Panel

CRADD

Comprehensive Brain Malformation Panel
Single Gene Analysis
Targeted Analysis

CRB2

Hereditary Cystic and Glomerular Disorders Panel
Hydrocephalus Panel

CRBN

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

CREB3L3

Dyslipidemia Panel
Liver Disease Panel

CREBBP

Ambiguous Genitalia Panel
Cornelia de Lange and Related Disorders Panel
Hyperinsulinism Panel
Microcephaly Panel
Monogenic Obesity Panel
Non-Specific Intellectual Disability Panel
Rubinstein-Taybi Syndrome Panel
Single Gene Analysis
Targeted Analysis

CRELD1

Congenital Heart Disease Panel

CRH

Epilepsy Exome

CRIPT

Microcephaly Panel
Primordial Dwarfism Panel
Single Gene Analysis

CRLF1

Epilepsy Exome

CRPPA

Comprehensive Brain Malformation Panel

CRTAP

Ehlers-Danlos Syndrome Panel

CRYAB

Arrhythmia and Cardiomyopathy Comprehensive Panel
Cardiomyopathy Comprehensive Panel
Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

CSF1R

Dystonia Exome

CSF3R

Comprehensive Hereditary Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel
Severe Congenital Neutropenia Panel
Single Gene Analysis
Targeted Analysis

CSFR3

Targeted Analysis

CSNK2A1

Non-Specific Intellectual Disability Panel

CSPP1

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

CSRP3

Arrhythmia and Cardiomyopathy Comprehensive Panel
Cardiomyopathy Comprehensive Panel
Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel
Hypertrophic Cardiomyopathy Panel

CSTB

Ataxia Exome
Epilepsy Exome
Targeted Analysis

CTBP1

Ataxia Exome

CTC1

Ataxia Exome
Epilepsy Exome
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel
Single Gene Analysis
Targeted Analysis
Telomere Biology Disorder/Dyskeratosis Congenita Panel
Thrombocytopenia Panel

CTCF

Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

CTDP1

Ataxia Exome

CTLA4

Comprehensive Hereditary Cancer Panel
Digestive Disease Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Monogenic Diabetes Panel
Single Gene Analysis

CTNNA1

Comprehensive Hereditary Cancer Panel
Hereditary Gastric Cancer Panel
Single Gene Analysis
Targeted Analysis

CTNNB1

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

CTNND2

Non-Specific Intellectual Disability Panel

CTNS

Hereditary Tubulopathy and Nephrolithiasis Panel
Hereditary Cystic and Glomerular Disorders Panel
Hypophosphatemic Rickets Panel

CTPS1

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

CTRC

Single Gene Analysis

CTSA

Ataxia Exome

CTSD

Ataxia Exome
Dystonia Exome
Epilepsy Exome
Neuronal Ceroid-Lipofuscinoses Panel
Single Gene Analysis
Targeted Analysis

CTSF

Ataxia Exome
Dystonia Exome
Epilepsy Exome
Neuronal Ceroid-Lipofuscinoses Panel
Single Gene Analysis

CTU2

Ambiguous Genitalia Panel
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel

CUL3

Hereditary Tubulopathy and Nephrolithiasis Panel

CUL4B

Ataxia Exome
Comprehensive Brain Malformation Panel
Epilepsy Exome
Macrocephaly Panel
Monogenic Obesity Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis
X-Linked Non-Specific Intellectual Disability Panel

CUL7

Ambiguous Genitalia Panel
Primordial Dwarfism Panel
Single Gene Analysis
Targeted Analysis

CUX2

Early Infantile Epileptic Encephalopathy (EIEE) Panel

CWF19L1

Ataxia Exome

Cx26

Targeted Analysis

CXCR2

Inherited Bone Marrow Failure Panel

CXCR4

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

CYB5A

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

CYBA

Digestive Disease Panel

CYBB

Digestive Disease Panel

CYCS

Single Gene Analysis
Thrombocytopenia Panel

CYFIP2

Early Infantile Epileptic Encephalopathy (EIEE) Panel

CYP11A1

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

CYP11B1

46,XX Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
Ambiguous Genitalia Panel
Epilepsy Exome
Male Infertility Panel
Single Gene Analysis
Targeted Analysis

CYP17A1

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

CYP19A1

46,XX Differences of Sex Development (DSD)/Complete Gonadal Dysgenesis Panel
Ambiguous Genitalia Panel
Female Infertility panel
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Male Infertility Panel
Premature Ovarian Failure Panel
Single Gene Analysis
Targeted Analysis

CYP21A2

Targeted Analysis

CYP24A1

Hereditary Tubulopathy and Nephrolithiasis Panel
Hypoparathyroidism Panel
Single Gene Analysis

CYP27A1

Ataxia Exome
Digestive Disease Panel
Dyslipidemia Panel
Dystonia Exome
Epilepsy Exome

CYP27B1

Hypophosphatemic Rickets Panel
Single Gene Analysis

CYP2R1

Hypophosphatemic Rickets Panel
Single Gene Analysis

CYP2U1

Ataxia Exome

CYP7B1

Ataxia Exome
Liver Disease Panel