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Tests > by Gene > S

S

Targeted Analysis

S. ZDHHC15

Targeted Analysis

SACS

Ataxia Exome

SALL1

Ambiguous Genitalia Panel
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Hereditary Cystic and Glomerular Disorders Panel
Single Gene Analysis
Targeted Analysis

SAMD9

Ambiguous Genitalia Panel
Comprehensive Hereditary Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Leukemia and Breast Cancer Panel
Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel
Single Gene Analysis
Thrombocytopenia Panel

SAMD9L

Ataxia Exome
Comprehensive Hereditary Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Leukemia and Breast Cancer Panel
Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel
Single Gene Analysis
Thrombocytopenia Panel

SAMHD1

Dystonia Exome
Epilepsy Exome

SAR1B

Digestive Disease Panel
Dyslipidemia Panel

SARS

Ataxia Exome

SARS2

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

SASS6

Microcephaly Panel
Single Gene Analysis

SATB2

Epilepsy Exome
Non-Specific Intellectual Disability Panel

SBDS

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

SBF2

Single Gene Analysis
Targeted Analysis

SCARB1

Dyslipidemia Panel
Hypercholesterolemia Panel

SCARB2

Ataxia Exome
Epilepsy Exome
Targeted Analysis

SCARF2

Ambiguous Genitalia Panel
Craniofacial Panel
Single Gene Analysis
Targeted Analysis

SCG5

Targeted Analysis

SCL2A1

Targeted Analysis

SCN1A

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

SCN1B

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

SCN2A

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

SCN3A

Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome

SCN4A

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

SCN5A

Arrhythmia and Cardiomyopathy Comprehensive Panel
Arrhythmia Comprehensive Panel
Arrhythmogenic Cardiomyopathy Panel
Brugada Syndrome Panel
Cardiomyopathy Comprehensive Panel
Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel
Long QT Syndrome Panel

SCN8A

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

SCN9A

Epilepsy Exome
Targeted Analysis

SCNN1A

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

SCNN1B

Hereditary Tubulopathy and Nephrolithiasis Panel

SCNN1G

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

SCO1

Ataxia Exome

SCP2

Dystonia Exome

SCYL1

Ataxia Exome
Liver Disease Panel

SDCCAG8

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

SDHA

Arrhythmia and Cardiomyopathy Comprehensive Panel
Ataxia Exome
Cardiomyopathy Comprehensive Panel
Comprehensive Hereditary Cancer Panel
Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel
Dystonia Exome
Epilepsy Exome
Hereditary Pheochromocytoma and Paraganglioma Panel
Mesothelioma Panel
Single Gene Analysis
Targeted Analysis

SDHAF1

Ataxia Exome
Dystonia Exome
Epilepsy Exome

SDHAF2

Comprehensive Hereditary Cancer Panel
Hereditary Pheochromocytoma and Paraganglioma Panel
Single Gene Analysis
Targeted Analysis

SDHB

Comprehensive Hereditary Cancer Panel
Hereditary Gastric Cancer Panel
Hereditary Pheochromocytoma and Paraganglioma Panel
Hereditary Thyroid Cancer Panel
Single Gene Analysis
Targeted Analysis

SDHC

Comprehensive Hereditary Cancer Panel
Hereditary Gastric Cancer Panel
Hereditary Pheochromocytoma and Paraganglioma Panel
Single Gene Analysis
Targeted Analysis

SDHD

Ataxia Exome
Comprehensive Hereditary Cancer Panel
Hereditary Pheochromocytoma and Paraganglioma Panel
Hereditary Thyroid Cancer Panel
Single Gene Analysis
Targeted Analysis

SEC23B

Macrocephaly Panel

SEC24D

Craniofacial Panel

SEC61A1

Hereditary Cystic and Glomerular Disorders Panel

SEC61B

Hereditary Cystic and Glomerular Disorders Panel

SEC63

Hereditary Cystic and Glomerular Disorders Panel

SEMA3A

Ambiguous Genitalia Panel
Female Infertility panel
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Male Infertility Panel
Single Gene Analysis
Targeted Analysis

SEMA3E

Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel

SEPN1

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

SEPSECS

Ataxia Exome
Comprehensive Brain Malformation Panel
Epilepsy Exome
Microcephaly Panel
Single Gene Analysis
Targeted Analysis

SEPTIN12

Male Infertility Panel

SERAC1

Dystonia Exome

SERPINA1

Liver Disease Panel

SERPINI1

Epilepsy Exome

SETBP1

Ambiguous Genitalia Panel
Epilepsy Exome
Non-Specific Intellectual Disability Panel
Schinzel-Giedion Syndrome Testing (SETBP1)
Single Gene Analysis
Targeted Analysis

SETD1A

Early Infantile Epileptic Encephalopathy (EIEE) Panel

SETD2

Macrocephaly Panel
Monogenic Obesity Panel
Single Gene Analysis

SETD5

Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

SETX

Ataxia Exome

SF3B4

Craniofacial Panel
Facial Dysostosis Panel
Single Gene Analysis
Targeted Analysis

SGCA

Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

SGCB

Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

SGCD

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

SGCE

Dystonia Exome

SGCG

Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

SGK196

Single Gene Analysis

SGO2

Female Infertility panel

SGPL1

Ambiguous Genitalia Panel

SH2B1

Monogenic Obesity Panel
Non-Syndromic Monogenic Obesity Panel

SH2B3

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

SH2D1A

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

SH3TC2

Ataxia Exome

SHANK2

Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

SHANK3

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

SHH

Epilepsy Exome
Holoprosencephaly Panel
Single Gene Analysis
Targeted Analysis

SHMT2

Comprehensive Brain Malformation Panel
Inherited Bone Marrow Failure Panel
Microcephaly Panel

SHOC2

Arrhythmia and Cardiomyopathy Comprehensive Panel
Cardiomyopathy Comprehensive Panel
Congenital Heart Disease Panel
Noonan Syndrome Panel
RASopathies and Noonan Spectrum Disorders Panel
Single Gene Analysis
Targeted Analysis

SHROOM4

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

SI

Digestive Disease Panel

SIK1

Early Infantile Epileptic Encephalopathy (EIEE) Panel

SIL1

Ataxia Exome
Neuromuscular Disorders Panel
Single Gene Analysis

SIM1

Monogenic Obesity Panel
Non-Syndromic Monogenic Obesity Panel
Single Gene Analysis
Targeted Analysis

SIN3A

Non-Specific Intellectual Disability Panel

SIRT1

Comprehensive Neonatal Diabetes Mutation Analysis
Monogenic Diabetes Panel
Neonatal Diabetes Panel

SIX1

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Hereditary Cystic and Glomerular Disorders Panel

SIX2

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel

SIX3

Epilepsy Exome
Holoprosencephaly Panel
Single Gene Analysis
Targeted Analysis

SIX5

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Craniofacial Panel
Hereditary Cystic and Glomerular Disorders Panel

SKI

Aortopathy Comprehensive Panel
Craniofacial Panel
Single Gene Analysis

SKIV2L

Digestive Disease Panel

SLC10A2

Digestive Disease Panel

SLC12A1

Hereditary Tubulopathy and Nephrolithiasis Panel

SLC12A3

Hereditary Tubulopathy and Nephrolithiasis Panel

SLC12A5

Early Infantile Epileptic Encephalopathy (EIEE) Panel

SLC12A6

Epilepsy Exome
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum Testing (SLC12A6)
Single Gene Analysis
Targeted Analysis

SLC13A5

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

SLC16A1

Ataxia Exome
Epilepsy Exome
Hyperinsulinism Panel
Single Gene Analysis
Targeted Analysis

SLC16A2

Dystonia Exome
Hypothyroidism Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis
Tier 2: SLC16A2 (MCT8) Mutation Analysis (Allan-Herndon-Dudley syndrome)
X-Linked Non-Specific Intellectual Disability Panel

SLC17A5

Ataxia Exome
Epilepsy Exome

SLC19A2

Ataxia Exome
Comprehensive Neonatal Diabetes Mutation Analysis
Monogenic Diabetes Panel
Neonatal Diabetes Panel
Single Gene Analysis
Targeted Analysis
Thiamine Responsive Megaloblastic Anemia (TRMA) Testing (SLC19A2)

SLC19A3

Ataxia Exome
Dystonia Exome
Epilepsy Exome
Targeted Analysis

SLC1A1

Hereditary Tubulopathy and Nephrolithiasis Panel

SLC1A2

Early Infantile Epileptic Encephalopathy (EIEE) Panel

SLC1A3

Ataxia Exome
Epilepsy Exome

SLC1A4

Early Infantile Epileptic Encephalopathy (EIEE) Panel
Microcephaly Panel

SLC20A2

Ataxia Exome
Dystonia Exome
Epilepsy Exome

SLC22A12

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

SLC22A5

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

SLC24A5

Albinism Panel
Single Gene Analysis
Targeted Analysis

SLC25A1

2-Hydroxyglutaric Aciduria Panel
Autosomal Recessive Non-Specific Intellectual Disability Panel
Congenital Myasthenic Syndrome Panel
Epilepsy Exome
Neuromuscular Disorders Panel
Non-Specific Intellectual Disability Panel
Single Gene Analysis
Targeted Analysis

SLC25A11

Hereditary Pheochromocytoma and Paraganglioma Panel

SLC25A12

Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome

SLC25A13

Liver Disease Panel

SLC25A15

Epilepsy Exome

SLC25A19

Microcephaly Panel
Single Gene Analysis
Targeted Analysis

SLC25A19. STAMBP

Targeted Analysis

SLC25A20

Epilepsy Exome

SLC25A22

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

SLC25A24

Craniofacial Panel

SLC25A46

Ataxia Exome
Comprehensive Brain Malformation Panel

SLC26A1

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

SLC26A3

Digestive Disease Panel
Liver Disease Panel

SLC26A4

Hypothyroidism Panel
Single Gene Analysis

SLC26A6

Hereditary Tubulopathy and Nephrolithiasis Panel

SLC26A7

Hypothyroidism Panel

SLC26A8

Male Infertility Panel

SLC29A3

Comprehensive Neonatal Diabetes Mutation Analysis
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Male Infertility Panel
Monogenic Diabetes Panel
Neonatal Diabetes Panel
Single Gene Analysis
Targeted Analysis

SLC2A1

Ataxia Exome
Dystonia Exome
Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome
Glucose Transporter Type 1 Deficiency Testing (SLC2A1)
Microcephaly Panel
Rett/Angelman Syndrome Panel
Single Gene Analysis
Targeted Analysis

SLC2A10

Aortopathy Comprehensive Panel

SLC2A2

Comprehensive Neonatal Diabetes Mutation Analysis
Hereditary Tubulopathy and Nephrolithiasis Panel
Monogenic Diabetes Panel
Neonatal Diabetes Panel
Single Gene Analysis
Targeted Analysis

SLC2A9

Hereditary Tubulopathy and Nephrolithiasis Panel

SLC30A10

Dystonia Exome

SLC30A9

Ataxia Exome

SLC33A1

Ataxia Exome

SLC34A1

Hereditary Tubulopathy and Nephrolithiasis Panel
Hypophosphatemic Rickets Panel

SLC34A3

Hereditary Tubulopathy and Nephrolithiasis Panel
Hypophosphatemic Rickets Panel
Single Gene Analysis

SLC35A2

Early Infantile Epileptic Encephalopathy (EIEE) Panel
Epilepsy Exome

SLC37A4

Digestive Disease Panel
Inherited Bone Marrow Failure Panel

SLC39A13

Ehlers-Danlos Syndrome Panel

SLC39A14

Dystonia Exome
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel

SLC39A4

Ataxia Exome

SLC3A1

Hereditary Tubulopathy and Nephrolithiasis Panel

SLC45A2

Albinism Panel
Single Gene Analysis
Targeted Analysis

SLC46A1

Ataxia Exome
Epilepsy Exome

SLC4A1

Hereditary Tubulopathy and Nephrolithiasis Panel

SLC4A4

Hereditary Tubulopathy and Nephrolithiasis Panel

SLC52A2

Ataxia Exome

SLC52A3

Ataxia Exome

SLC5A1

Digestive Disease Panel

SLC5A5

Hypothyroidism Panel

SLC5A7

Congenital Myasthenic Syndrome Panel
Neuromuscular Disorders Panel

SLC6A1

Ataxia Exome
Non-Specific Intellectual Disability Panel

SLC6A17

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

SLC6A19

Ataxia Exome

SLC6A3

Dystonia Exome

SLC6A8

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

SLC7A7

Hereditary Tubulopathy and Nephrolithiasis Panel

SLC7A9

Hereditary Tubulopathy and Nephrolithiasis Panel

SLC9A1

Ataxia Exome

SLC9A3

Digestive Disease Panel

SLC9A3R1

Hereditary Tubulopathy and Nephrolithiasis Panel
Hypophosphatemic Rickets Panel

SLC9A6

Ataxia Exome
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

SLC9A9

Epilepsy Exome

SLF2

Microcephaly Panel

SLFN14

Single Gene Analysis
Thrombocytopenia Panel

SLIT2

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel

SLX4

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

SMAD2

Aortopathy Comprehensive Panel
Loeys-Dietz Syndrome Panel

SMAD3

Aortopathy Comprehensive Panel
Loeys-Dietz Syndrome Panel

SMAD4

Aortopathy Comprehensive Panel
Comprehensive Hereditary Cancer Panel
Hereditary Colorectal Cancer Panel
Hereditary Gastric Cancer Panel
Hereditary Hemorrhagic Telangiectasia (HHT) Panel
Single Gene Analysis
Targeted Analysis

SMAD6

Congenital Heart Disease Panel

SMAD9

Congenital Heart Disease Panel

SMADIP1

Targeted Analysis

SMARCA2

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

SMARCA4

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

SMARCB1

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

SMARCC2

Coffin Siris Syndrome Panel

SMARCD2

Inherited Bone Marrow Failure Panel

SMARCE1

Coffin Siris Syndrome Panel
Comprehensive Hereditary Cancer Panel
Cornelia de Lange and Related Disorders Panel
Epilepsy Exome
Single Gene Analysis
Targeted Analysis

SMC1A

Cornelia de Lange and Related Disorders Panel
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

SMC3

Cornelia de Lange and Related Disorders Panel
Epilepsy Exome
Single Gene Analysis
Targeted Analysis

SMPD1

Liver Disease Panel
Thrombocytopenia Panel

SMPD4

Comprehensive Brain Malformation Panel
Microcephaly Panel

SMPX

Neuromuscular Disorders Panel

SMS

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

SNAP25

Ataxia Exome
Congenital Myasthenic Syndrome Panel
Neuromuscular Disorders Panel
Single Gene Analysis

SNAP29

Comprehensive Brain Malformation Panel
Microcephaly Panel
Single Gene Analysis
Targeted Analysis

SNIP1

Epilepsy Exome

SNRPB

Craniofacial Panel

SNX14

Ataxia Exome
Macrocephaly Panel

SOBP

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

SOD1

Ataxia Exome

SOHLH1

Female Infertility panel
Male Infertility Panel
Premature Ovarian Failure Panel

SON

Comprehensive Brain Malformation Panel
Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel

SOS1

Ambiguous Genitalia Panel
Arrhythmia and Cardiomyopathy Comprehensive Panel
Cardiomyopathy Comprehensive Panel
Congenital Heart Disease Panel
Non-Specific Intellectual Disability Panel
Noonan Syndrome Panel
RASopathies and Noonan Spectrum Disorders Panel
Single Gene Analysis
Targeted Analysis

SOS2

Arrhythmia and Cardiomyopathy Comprehensive Panel
Cardiomyopathy Comprehensive Panel
Noonan Syndrome Panel
RASopathies and Noonan Spectrum Disorders Panel

SOX10

Ambiguous Genitalia Panel
Ataxia Exome
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Male Infertility Panel

SOX11

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

SOX17

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel
Congenital Heart Disease Panel

SOX2

Ambiguous Genitalia Panel
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Single Gene Analysis
Targeted Analysis

SOX3

Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Hypoparathyroidism Panel
Single Gene Analysis

SOX4

Coffin Siris Syndrome Panel

SOX9

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

SPAG1

Male Infertility Panel

SPAST

Ataxia Exome

SPATA16

Male Infertility Panel

SPATA5

Microcephaly Panel

SPECC1L

Ambiguous Genitalia Panel
Craniofacial Panel
Single Gene Analysis
Targeted Analysis

SPEF2

Male Infertility Panel

SPEG

Congenital Myopathy Panel
Neuromuscular Disorders Panel
Single Gene Analysis

SPG11

Ataxia Exome

SPG20

Ataxia Exome

SPG21

Ataxia Exome

SPG7

Ataxia Exome

SPIDR

Female Infertility panel

SPINK1

Single Gene Analysis

SPINT2

Digestive Disease Panel
Liver Disease Panel

SPR

Ataxia Exome
Dystonia Exome

SPRED1

Arrhythmia and Cardiomyopathy Comprehensive Panel
Cardiomyopathy Comprehensive Panel
Macrocephaly Panel
RASopathies and Noonan Spectrum Disorders Panel

SPRY4

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

SPTAN1

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

SPTBN2

Ataxia Exome

SQSTM1

Ataxia Exome
Dystonia Exome
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel
Neuromuscular Disorders Panel

SRA1

Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel
Male Infertility Panel

SRC

Single Gene Analysis
Thrombocytopenia Panel

SRCAP

Cornelia de Lange and Related Disorders Panel
Primordial Dwarfism Panel
Single Gene Analysis
Targeted Analysis

SRD5A2

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

SRD5A3

Comprehensive Brain Malformation Panel
Single Gene Analysis
Targeted Analysis

SRGAP1

Hereditary Thyroid Cancer Panel
Single Gene Analysis

SRP54

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

SRP72

Comprehensive Hereditary Cancer Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Leukemia and Breast Cancer Panel
Hereditary Myeloid Malignancy Panel
Inherited Bone Marrow Failure Panel
Single Gene Analysis
Targeted Analysis

SRPX2

Comprehensive Brain Malformation Panel
Epilepsy Exome
Single Gene Analysis
Targeted Analysis

SRY

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

ST3GAL3

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

ST3GAL5

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

STAC3

Congenital Myopathy Panel
Neuromuscular Disorders Panel
Single Gene Analysis

STAG3

Female Infertility panel
Premature Ovarian Failure Panel

STAMBP

Epilepsy Exome
Microcephaly Panel
Single Gene Analysis
Targeted Analysis

STAP1

Dyslipidemia Panel
Hypercholesterolemia Panel

STAR

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

STAT1

Comprehensive Neonatal Diabetes Mutation Analysis
Digestive Disease Panel
Monogenic Diabetes Panel
Neonatal Diabetes Panel
Single Gene Analysis

STAT3

Comprehensive Hereditary Cancer Panel
Comprehensive Neonatal Diabetes Mutation Analysis
Craniofacial Panel
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition panel
Hereditary Lymphoid Malignancy/Immunodeficiency Predisposition Panel
Monogenic Diabetes Panel
Neonatal Diabetes Panel
Single Gene Analysis

STAT5B

Comprehensive Neonatal Diabetes Mutation Analysis
Monogenic Diabetes Panel
Neonatal Diabetes Panel

STIL

Holoprosencephaly Panel
Microcephaly Panel
Single Gene Analysis
Targeted Analysis

STIM1

Congenital Myopathy Panel
Digestive Disease Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Thrombocytopenia Panel

STK11

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

STK4

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

STK9

Targeted Analysis

STN1 (A.K.A. OBFC1)

Inherited Bone Marrow Failure Panel
Telomere Biology Disorder/Dyskeratosis Congenita Panel
Thrombocytopenia Panel

STRADA

Epilepsy Exome
Macrocephaly Panel
Targeted Analysis

STUB1

Ataxia Exome

STX16

Hypoparathyroidism Panel
Single Gene Analysis

STX1B

Epilepsy Exome

STX3

Digestive Disease Panel

STXBP1

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

STXBP2

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

SUCLA2

Dystonia Exome
Epilepsy Exome
Hereditary Tubulopathy and Nephrolithiasis Panel

SUCLG1

Ataxia Exome
Epilepsy Exome

SUFU

Ataxia Exome
Comprehensive Hereditary Cancer Panel
Holoprosencephaly Panel
Joubert/Meckel Gruber Syndrome Panel
Macrocephaly Panel

SUMF1

Ataxia Exome
Epilepsy Exome

SUN5

Male Infertility Panel

SUOX

Ataxia Exome
Dystonia Exome

SURF1

Ataxia Exome
Dystonia Exome
Epilepsy Exome
Hereditary Tubulopathy and Nephrolithiasis Panel

SUZ12

Macrocephaly Panel

SVIL

Congenital Myopathy Panel
Neuromuscular Disorders Panel

SYCE1

Female Infertility panel
Male Infertility Panel

SYCP3

Female Infertility panel
Male Infertility Panel

SYN1

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

SYNE1

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

SYNE2

Congenital Myopathy Panel
Neuromuscular Disorders Panel
Single Gene Analysis
Targeted Analysis

SYNGAP1

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

SYNJ1

Dystonia Exome
Early Infantile Epileptic Encephalopathy (EIEE) Panel

SYP

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

SYT14

Ataxia Exome

SYT2

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

SZT2

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