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Genes for which GeneDx offers tests

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A Back To Top

AAAS

• AAAS Del/Dup
• AAAS Gene Sequencing

AARS2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

ABCA12

• ABCA12 Del/Dup
• ABCA12 Gene Sequencing
• ABCA12 Select Exon Sequencing

ABCA4

• ABCA4 Del/Dup
• Cone-Rod Dystrophy Sequencing Panel
• Stargardt Sequencing Panel
• Stargardt Del/Dup Panel
• arRP Del/Dup Panel
• arRP Sequencing Panel

ABCB7

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel

ABCC6

• ABCC6 Del/Dup
• ABCC6 Gene Sequencing
• ABCC6 Hot Spots (Tier I)

ABHD5

• ABHD5 Del/Dup
• ABHD5 Gene Sequencing

ACAD8

• ACAD8 Del/Dup
• ACAD8 Gene Sequencing

ACAD9

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

ACADM

• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• ACADM Del/Dup
• ACADM Gene Sequencing
• ACADM Mutation Detection (T121I)
• ACADM Remaining Exons Sequencing
• ACADM Select Exons Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

ACADS

• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• ACADS Del/Dup
• ACADS Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

ACADSB

• ACADSB (M389V) Mutation Analysis
• ACADSB Del/Dup
• ACADSB Gene Sequencing

ACADVL

• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• ACADVL Del/Dup
• ACADVL Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

ACAT1

• ACAT1 Del/Dup
• ACAT1 Gene Sequencing

ACSF3

• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel
• ACSF3 Gene Sequencing

ACTA1

• ACTA1 Gene Sequencing
• ACTA1 Gene Sequencing & NEB Mutation Analysis

ACTA2

• Marfan Syndrome/TAAD Sequencing Panel

ACTC (ACTC1)

• HCM Sequencing Panel
• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

ACTN2

• DCM/LVNC Sequencing Panel

ACVR2B

• Heterotaxy Panel

ADA

• Comprehensive SCID Panel
• ADA Del/Dup
• ADA Gene Sequencing
• B-negative SCID Panel

ADCK3 (CABC1; COQ8)

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• CoEnzyme Q10 Deficiency Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

ADSL

• Adolescent-Onset Epilepsy Panel
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

AGA

• AGA Del/Dup
• AGA Gene Sequencing

AICDA

• AICDA Del/Dup
• AICDA Gene Sequencing

AIFM1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

AIPL1

• AIPL1 Del/Dup
• AIPL1 Gene Sequencing
• LCA Tier 5
• LCA Tier 1

AIRE

• AIRE Del/Dup
• AIRE Gene Sequencing
• AIRE Remaining Exons
• AIRE Select Exons

AK2

• Comprehensive SCID Panel
• B-negative SCID Panel

AKAP9

• LQTS Del/Dup Panel
• LQTS Sequencing Panel

ALAS2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel

ALDH3A2

• ALDH3A2 Del/Dup
• ALDH3A2 Gene Sequencing

ALDH7A1

• Infantile Epilepsy Panel
• Comprehensive Epilepsy Panel

ALOX12B

• ALOX12B Del/Dup
• ALOX12B Gene Sequencing

ALOXE3

• ALOXE3 Del/Dup
• ALOXE3 Gene Sequencing

ANK2

• Sudden Cardiac Arrest Arrhythmia Sequencing Panel
• LQTS Del/Dup Panel
• LQTS Sequencing Panel

ANKRD1

• DCM/LVNC Sequencing Panel

ANKRD11

• ANKRD11 Gene Sequencing

APTX

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• CoEnzyme Q10 Deficiency Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

AR

• AR Del/Dup
• AR Gene Sequencing
• Prenatal AR Gene Sequencing

ARG1

• ARG1 Del/Dup
• ARG1 Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

ARSA

• ARSA Del/Dup
• ARSA Gene Sequencing

ARSB

• ARSB Del/Dup
• ARSB Gene Sequencing

ARSE

• ARSE Del/Dup
• ARSE Gene Sequencing
• ARSE Gene Sequencing & Del/Dup (Females)

ARX

• ARX Del/Dup
• Infantile Epilepsy Panel
• Comprehensive Epilepsy Panel

ASL

• ASL Del/Dup
• ASL Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

ASPA

• ASPA Del/Dup
• ASPA Gene Sequencing & Del/Dup

ASS1

• ASS1 Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

ATP1A2

• Comprehensive Epilepsy Panel

ATP2A2

• ATP2A2 Gene Sequencing

ATP2C1

• ATP2C1 Gene Sequencing

ATP5E

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel
• Methylglutaconic Aciduria Nuclear Gene Panel

ATP6AP2

• Infantile Epilepsy Panel
• Comprehensive Epilepsy Panel

ATPAF2 (ATP12)

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel
• Methylglutaconic Aciduria Nuclear Gene Panel

AUH

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
• AUH Del/Dup
• AUH Gene Sequencing
• Methylglutaconic Aciduria Nuclear Gene Panel

B Back To Top

BCKDHA

• BCKDHA Del/Dup
• BCKDHA Gene Sequencing
• MSUD Sequencing panel
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

BCKDHB

• BCKDHB Del/Dup
• BCKDHB Gene Sequencing
• MSUD Sequencing panel
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

BCOR

• BCOR Del/Dup
• BCOR P85L Mutation
• BCOR Remaining Exons Sequencing
• BCOR Select Exons Sequencing & Del/Dup

BCS1L

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

BEST1

• BEST1 Del/Dup
• BEST1 Gene Sequencing

BLM

• BLM Del/Dup
• BLM Gene Sequencing

BMP15

• Premature Ovarian Failure Sequnecing Panel

BMPR1A

• JPS Tier 2
• JPS Del/Dup Analysis
• JPS Tier 1

BRAF

• Noonan Spectrum Disorders Panel
• Prenatal Noonan Spectrum Disorders Panel

BTD

• BTD Del/Dup
• BTD Gene Sequencing

BTK

• BTK Del/Dup
• BTK Gene Sequencing & Del/Dup

C Back To Top

C10ORF2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

C12ORF65

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

C20ORF7

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

C8ORF38

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

CABP4

• CABP4 Gene Sequencing

CACNA1C

• LQTS Del/Dup Panel
• LQTS Sequencing Panel
• Cardiomyopathies Del/Dup Panel
• BrS Sequencing Panel
• Other Arrhythmic Disorders Del/Dup Panel

CACNA1F

• CACNA1F Gene Sequencing

CACNB2

• Cardiomyopathies Del/Dup Panel
• BrS Sequencing Panel
• Other Arrhythmic Disorders Del/Dup Panel

CACNB4

• Adolescent-Onset Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

CASP10

• CASP10 Gene Sequencing

CASP8

• CASP8 Gene Sequencing

CASQ2

• Sudden Cardiac Arrest Arrhythmia Sequencing Panel
• Cardiomyopathies Del/Dup Panel
• CPVT Sequencing Panel
• Other Arrhythmic Disorders Del/Dup Panel

CASR

• CASR Gene Sequencing

CAV3

• Sudden Cardiac Arrest Arrhythmia Sequencing Panel
• LQTS Del/Dup Panel
• LQTS Sequencing Panel
• HCM Sequencing Panel
• Cardiomyopathies Del/Dup Panel

CBL

• Noonan Spectrum Disorders Panel
• CBL/NRAS Gene Sequencing

CBS

• Marfan Syndrome/TAAD Sequencing Panel
• CBS Del/Dup
• CBS Gene Sequencing

CCM2

• CCM2 Gene Sequencing
• CCM Del/Dup Panel
• CCM Tier 2

CD320

• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel

CD3D

• B-positive SCID Panel
• Comprehensive SCID Panel

CD3E

• B-positive SCID Panel
• Comprehensive SCID Panel

CD3Z

• B-positive SCID Panel
• Comprehensive SCID Panel

CD40

• CD40 Gene Sequencing

CD40LG

• CD40LG Del/Dup
• CD40LG Gene Sequencing

CDC73 (HRPT2)

• CDC73 (HRPT2) Gene Sequencing
• CDC73 (HRPT2) Del/Dup
• CDC73 (HRPT2) Remaining Exons Sequencing
• CDC73 (HRPT2) Select Exons Sequencing

CDH23

• Usher Syndrome Del/Dup Panel
• Usher Syndrome Panel

CDK4

• CDKN2A (p16) & CDK4 (Exon2) Sequencing

CDKL5

• CDKL5 Del/Dup
• CDKL5 Gene Sequencing
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

CDKN2A

• CDKN2A (p16) Gene Sequencing
• CDKN2A (p16) & CDK4 (Exon2) Sequencing

CEP290

• CEP290 Del/Dup
• CEP290 Hot Spots
• LCA Tier 1

CERKL

• CERKL Del/Dup
• CERKL Gene Sequencing

CFC1

• Heterotaxy Panel

CHD7

• CHD7 Del/Dup
• CHD7 Gene Sequencing
• Prenatal CHD7 Gene Sequencing

CHM

• CHM Del/Dup
• CHM Gene Sequencing

CHRNA2

• Adolescent-Onset Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

CHRNA4

• Adolescent-Onset Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

CHRNB2

• Adolescent-Onset Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

CISD2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

CLCN5

• CLCN5 Del/Dup (Females)
• CLCN5 Gene Sequencing

CLN3

• Progressive Myoclonic Epilepsy Panel
• Adolescent-Onset Epilepsy Panel
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

CLN5

• Progressive Myoclonic Epilepsy Panel
• Adolescent-Onset Epilepsy Panel
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

CLN6

• Progressive Myoclonic Epilepsy Panel
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

CLN8

• Progressive Myoclonic Epilepsy Panel
• Adolescent-Onset Epilepsy Panel
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

CLRN1

• Usher Syndrome Del/Dup Panel
• Usher Syndrome Panel

CNGA1

• CNGA1 Del/Dup
• CNGA1 Gene Sequencing

CNGA3

• CNGA3 Del/Dup
• CNGA3 Gene Sequencing

CNGB3

• CNGB3 Del/Dup
• CNGB3 Gene Sequencing

CNTNAP2

• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

COL17A1

• COL17A1 Del/Dup
• COL17A1 Gene Sequencing

COL3A1

• Marfan Syndrome/TAAD Sequencing Panel

COL4A5

• COL4A5 Del/Dup
• COL4A5 Gene Sequencing

COL5A1

• Marfan Syndrome/TAAD Sequencing Panel

COL5A2

• Marfan Syndrome/TAAD Sequencing Panel

COL7A1

• COL7A1 Del/Dup
• COL7A1 Gene Sequencing

COMP

• COMP Del/Dup
• COMP Gene Sequencing

COQ2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• CoEnzyme Q10 Deficiency Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

COQ9

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• CoEnzyme Q10 Deficiency Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

COX10

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

COX15

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

COX6B1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

CPS1

• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

CPT1A

• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• CPT1A Del/Dup
• CPT1A Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

CPT2

• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• CPT2 Del/Dup
• CPT2 Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

CRB1

• CRB1 Del/Dup
• CRB1 Gene Sequencing
• LCA Tier 2
• LCA Tier 1
• arRP Del/Dup Panel
• arRP Sequencing Panel

CREBBP

• CREBBP Del/Dup
• CREBBP Remaining Exons Sequencing
• CREBBP Select Exons Sequencing & Del/Dup
• CREBBP Sequencing & Del/Dup

CRELD1

• Heterotaxy Panel

CRX

• CRX Del/Dup
• CRX Gene Sequencing

CSRP3

• DCM/LVNC Sequencing Panel

CSTB

• Progressive Myoclonic Epilepsy Panel
• Adolescent-Onset Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

CTSD

• Progressive Myoclonic Epilepsy Panel
• Adolescent-Onset Epilepsy Panel
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

CYBA

• CYBA Del/Dup
• CYBA Gene Sequencing
• CGD Tier2

CYBB

• CYBB Del/Dup
• CYBB Gene Sequencing
• CGD Tier 1

CYP17A1

• Premature Ovarian Failure Sequnecing Panel
• CYP17A1 Del/Dup
• CYP17A1 Gene Sequencing

CYP19A1

• Premature Ovarian Failure Sequnecing Panel
• CYP19A1 Del/Dup
• CYP19A1 Gene Sequencing

CYP1B1

• CYP1B1 Del/Dup
• CYP1B1 Gene Sequencing

CYP27B1

• CYP27B1 Select Exons Sequencing

CYP4F22

• CYP4F22 Gene Sequencing

D Back To Top

DARS2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

DBT

• DBT Del/Dup
• DBT Gene Sequencing
• MSUD Sequencing panel
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

DCDC1

• PAX6 Gene Sequencing & Del/Dup Panel

DCLRE1C (ARTEMIS)

• Comprehensive SCID Panel
• DCLRE1C Athabascan mutation
• DCLRE1C Del/Dup
• DCLRE1C Gene Sequencing & Deletion
• B-negative SCID Panel

DES

• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

DFNB31 (WHRN)

• Usher Syndrome Del/Dup Panel
• Usher Syndrome Panel

DGUOK

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

DHCR7

• DHCR7 Del/Dup
• DHCR7 Gene Sequencing
• Prenatal DHCR7 Gene Sequencing

DHH

• DHH Del/Dup
• DHH Gene Sequencing

DKC1

• DKC1 Del/Dup
• DKC1 Gene Sequencing

DLAT

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

DLD

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• DLD Del/Dup
• DLD Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

DMP1

• DMP1 Gene Sequencing

DNAJC19

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Methylglutaconic Aciduria Nuclear Gene Panel

DNM1L

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

DOCK8

• DOCK8 Del/Dup

DSC2

• ARVC Del/Dup Panel
• ARVC Sequencing Panel

DSG2

• ARVC Del/Dup Panel
• ARVC Sequencing Panel

DSP

• ARVC Del/Dup Panel
• ARVC Sequencing Panel

E Back To Top

EDA1

• EDA1 Del/Dup
• EDA1 Gene Sequencing & Del/Dup (Female)
• EDA1 Gene Sequencing (males)

EDAR

• EDAR Del/Dup
• EDAR Gene Sequencing

EDARADD

• EDARADD Gene Sequencing

EFHC1

• Adolescent-Onset Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

EFNB1

• EFNB1 Del/Dup
• EFNB1 Gene Sequencing

ELANE (ELA2)

• ELANE (ELA2) Gene Sequencing
• Periodic Fever Syndromes Panel (7 genes)

ELN

• ELN FISH
• ELN Gene Sequencing

ELOVL4

• ELOVL4 Del/Dup
• ELOVL4 Tier 1
• ELOVL4 Tier 2
• Stargardt Sequencing Panel
• Stargardt Del/Dup Panel

ELP4

• PAX6 Gene Sequencing & Del/Dup Panel

EMD

• DCM/LVNC Sequencing Panel

EPM2A

• Progressive Myoclonic Epilepsy Panel
• Adolescent-Onset Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

ETFA

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• ETFA Del/Dup
• ETFA Gene Sequencing
• GAII/MADD Tiered Sequencing Panel
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

ETFB

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• ETFB Del/Dup
• ETFB Gene Sequencing
• GAII/MADD Tiered Sequencing Panel
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

ETFDH

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• ETFDH Del/Dup
• ETFDH Gene Sequencing
• GAII/MADD Tiered Sequencing Panel
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• CoEnzyme Q10 Deficiency Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

ETHE1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• ETHE1 Del/Dup
• ETHE1 Gene Sequencing & Del/Dup
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

EXT1

• EXT1 & EXT2 Sequencing & Del/Dup
• HME Tier 1

EXT2

• HME Tier 2
• EXT1 & EXT2 Sequencing & Del/Dup
• HME Tier 1

EYA1

• EYA1 Del/Dup
• EYA1 Gene Sequencing & Del/Dup

EYS

• arRP Del/Dup Panel
• arRP Sequencing Panel

F Back To Top

F12

• F12 Select Exons Sequencing

FAH

• FAH Del/Dup
• FAH Gene Sequencing
• FAH Remaining Exons Sequencing
• FAH Select Exons Sequencing

FAS (TNFRSF6)

• FAS (TNFRSF6) Gene Sequencing

FASTKD2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

FBN1

• Marfan Syndrome/TAAD Sequencing Panel
• Marfan, Loeys-Dietz, and Related Disorders Del/Dup Panel

FBN2

• Marfan Syndrome/TAAD Sequencing Panel

FBP1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

FGF23

• FGF23 Gene Sequencing

FGFR1

• FGFR1 Gene Sequencing

FH

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• FH Del/Dup
• FH Gene Sequencing
• FH Remaining Exons Sequencing
• FH Select Exons Sequencing
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

FLCN

• FLCN Del/Dup
• FLCN Gene Sequencing

FLG

• FLG Hot Spots

FMR1

• FMR1 CGG Repeat Analysis

FOXC1

• FOXC1 Del/Dup
• FOXC1 Gene Sequencing

FOXE3

• FOXE3 Gene Sequencing

FOXG1

• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

FOXH1

• Heterotaxy Panel

FOXRED1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

FRMD7

• FRMD7 Gene Sequencing

FSHR

• Premature Ovarian Failure Sequnecing Panel

FUCA1

• FUCA1 Del/Dup
• FUCA1 Gene Sequencing

FZD4

• FZD4 Del/Dup
• FZD4 Gene Sequencing

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G6PC

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

GAA

• GAA Del/Dup
• GAA Gene Sequencing

GABRA1

• Adolescent-Onset Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

GABRG2

• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

GALC

• GALC Del/Dup
• GALC Gene Sequencing & Del/Dup

GALK1

• GALK1 Del/Dup
• GALK1 Gene Sequencing

GALNS

• GALNS Del/Dup
• GALNS Gene Sequencing

GALT

• GALT Del/Dup
• GALT Gene Sequencing & Del/Dup

GAMT

• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

GATM

• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

GCDH

• GCDH Del/Dup
• GCDH Gene Sequencing

GCH1

• GCH1 Del/Dup
• GCH1 Gene Sequencing

GCK

• MODY Sequencing Panel

GDF1

• Heterotaxy Panel

GDF9

• Premature Ovarian Failure Sequnecing Panel

GFAP

• GFAP Gene Sequencing

GFER

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

GFM1 (EFG1)

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

GJA1

• Heterotaxy Panel

GJB2 (Cx26)

• GJB2 Gene Sequencing

GJB3 (Cx31)

• Connexin Gene Testing

GJB4 (Cx30.3)

• Connexin Gene Testing

GJB6 (Cx30)

• GJB6 Gene Sequencing

GK

• GK Del/Dup
• GK Gene Sequencing

GLA

• HCM Sequencing Panel
• GLA Del/Dup (Females)
• GLA Gene Sequencing
• Cardiomyopathies Del/Dup Panel

GLB1

• GLB1 Del/Dup
• GLB1 Gene Sequencing

GLI3

• GLI3 Gene Sequencing & Del/Dup
• GLI3 Remaining Exons Sequencing & Del/Dup
• GLI3 Select Exons Sequencing

GLUD1

• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

GNAT1

• GNAT1 Gene Sequencing

GNE

• GNE (M712T) Mutation Analysis
• GNE Del/Dup

GNS

• GNS Del/Dup
• GNS Gene Sequencing & Del/Dup
• Sanfilippo/MPSIII Sequencing Panel

GPC3

• GPC3 Del/Dup
• GPC3 Gene Sequencing & Del/Dup (Females)
• GPC3 Gene Sequencing (Males)

GPD1L

• BrS Sequencing Panel
• Other Arrhythmic Disorders Del/Dup Panel

GPR98

• Usher Syndrome Del/Dup Panel
• Usher Syndrome Panel

GRM6

• GRM6 Gene Sequencing

GUCA1A

• GUCA1A Del/Dup
• GUCA1A Gene Sequencing

GUCY2D

• GUCY2D Del/Dup
• GUCY2D Gene Sequencing
• GUCY2D Select Exons Sequencing
• LCA Tier 4
• LCA Tier 1

GYS2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

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HADH

• HADH Del/Dup
• HADH Gene Sequencing

HADHA

• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• HADHA Common Mutation (c.1528 G>C)
• HADHA Del/Dup
• HADHA Gene Sequencing
• HADHA/HADHB Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

HADHB

• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• HADHB Del/Dup
• HADHB Gene Sequencing
• HADHA/HADHB Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

HAX1

• HAX1 Del/Dup
• HAX1 Gene Sequencing

HESX1

• HESX1 Del/Dup
• HESX1 Gene Sequencing

HEXA

• HEXA Del/Dup
• HEXA Gene Sequencing

HEXB

• HEXB Del/Dup
• HEXB Gene Sequencing & Del/Dup

HGSNAT

• HGSNAT Del/Dup
• HGSNAT Gene Sequencing
• Sanfilippo/MPSIII Sequencing Panel

HLCS

• HLCS Del/Dup
• HLCS Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

HMGCL

• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• HMGCL Del/Dup
• HMGCL Exon 2 Sequencing
• HMGCL Gene Sequencing
• HMGCL Remaining Exons Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

HMGCS2

• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

HNF1A

• MODY Sequencing Panel

HNF1B

• MODY Sequencing Panel

HNF4A

• MODY Sequencing Panel

HOXD13

• HOXD13 Del/Dup
• HOXD13 Gene Sequencing

HPD

• HPD Del/Dup
• HPD Gene Sequencing

HPS1

• HPS1 & HPS3 Mutation Analysis (Puerto Rican)

HPS3

• HPS3 Mutation Analysis (Ashkenazi Jewish)
• HPS1 & HPS3 Mutation Analysis (Puerto Rican)

HRAS

• Noonan Spectrum Disorders Panel
• HRAS Gene Sequencing
• Prenatal Noonan Spectrum Disorders Panel

HSD17B10

• HSD17B10 Del/Dup (Females)
• HSD17B10 Gene Sequencing

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IGHMBP2

• IGHMBP2 Del/Dup
• IGHMBP2 Gene Sequencing

IKBKG (NEMO)

• IKBKG (NEMO) Common Deletion (Female)
• IKBKG (NEMO) Gene Sequencing & Del/Dup
• IKBKG (NEMO) Gene Sequencing (HED)
• IKBKG (NEMO) Gene Sequencing (IP)

IL2RG

• B-positive SCID Panel
• Comprehensive SCID Panel
• IL2RG Del/Dup
• IL2RG Gene Sequencing

IL7R

• B-positive SCID Panel
• Comprehensive SCID Panel
• IL7R Del/Dup
• IL7R Gene Sequencing

IMPDH1

• adRP Tier 3
• IMPDH1 Gene Sequencing
• adRP Tier 1

IRAK4

• IRAK4 Del/Dup
• IRAK4 Gene Sequencing

IRF6

• IRF6 Del/Dup
• IRF6 Exon 4 Sequencing
• IRF6 Gene Sequencing

ISCU

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

ITGA6

• ITGA6 Gene Sequencing

ITGB2

• ITGB2 Del/Dup
• ITGB2 Gene Sequencing

ITGB4

• ITGB4 Gene Sequencing

IVD

• IVD Del/Dup
• IVD Gene Sequencing
• IVD Tier 1
• IVD Tier 2
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

Ichthyin(NIPAL4)

• Ichthyin(NIPAL4) Gene Sequencing

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JAG1

• JAG1 Del/Dup
• JAG1 Gene Sequencing & Del/Dup
• JAG1 Tier 1
• JAG1 Tier 2

JAK3

• B-positive SCID Panel
• Comprehensive SCID Panel
• JAK3 Del/Dup
• JAK3 Gene Sequencing

JUP

• ARVC Del/Dup Panel
• ARVC Sequencing Panel

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KAL1

• KAL1 Del/Dup
• KAL1 FISH
• KAL1 Gene Sequencing

KCNE1

• Sudden Cardiac Arrest Arrhythmia Sequencing Panel
• LQTS Del/Dup Panel
• LQTS Sequencing Panel

KCNE2

• Sudden Cardiac Arrest Arrhythmia Sequencing Panel
• LQTS Del/Dup Panel
• LQTS Sequencing Panel

KCNE3

• BrS Sequencing Panel

KCNH2

• Sudden Cardiac Arrest Arrhythmia Sequencing Panel
• LQTS Del/Dup Panel
• LQTS Sequencing Panel
• SQTS Sequencing Panel

KCNJ2

• Sudden Cardiac Arrest Arrhythmia Sequencing Panel
• LQTS Del/Dup Panel
• LQTS Sequencing Panel
• SQTS Sequencing Panel
• CPVT Sequencing Panel

KCNQ1

• Sudden Cardiac Arrest Arrhythmia Sequencing Panel
• LQTS Del/Dup Panel
• LQTS Sequencing Panel
• SQTS Sequencing Panel

KCNQ2

• Infantile Epilepsy Panel
• Comprehensive Epilepsy Panel

KCNQ3

• Infantile Epilepsy Panel
• Comprehensive Epilepsy Panel

KRAS

• Noonan Spectrum Disorders Panel
• Prenatal Noonan Spectrum Disorders Panel

KRIT1

• CCM Tier 1
• CCM Del/Dup Panel
• CCM Tier 2

KRT1

• KRT1 Gene Sequencing
• KRT1 Gene Sequencing (EI)
• KRT1, KRT10 Hot Spots

KRT10

• KRT10 Gene Sequencing
• KRT1, KRT10 Hot Spots

KRT13

• KRT13 Gene Sequencing
• KRT4, KRT13 Hot Spots

KRT14

• KRT14 Gene Sequencing
• KRT5/14 Hot Spots

KRT16

• KRT16 Gene Sequencing (NEPPK)
• KRT16 Gene Sequencing (PC1)
• KRT16 Hot Spots
• KRT6A, KRT16 Hot Spots

KRT17

• KRT17 Gene Sequencing
• KRT17 Hot Spots
• KRT6B, KRT17 Hot Spots

KRT2

• KRT2 Hot Spots

KRT4

• KRT4 Gene Sequencing
• KRT4, KRT13 Hot Spots

KRT5

• KRT5 Gene Sequencing
• KRT5/14 Hot Spots

KRT6A

• KRT6A Gene Sequencing
• KRT6A, KRT16 Hot Spots

KRT6B

• KRT6B Gene Sequencing
• KRT6B, KRT17 Hot Spots

KRT9

• KRT9 Hot Spots

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L1CAM

• L1CAM Del/Dup
• L1CAM Gene Sequencing & Del/Dup
• L1CAM Gene Sequencing (Males)
• Prenatal L1CAM Gene Sequencing & Del/Dup (Females)
• Prenatal L1CAM Gene Sequencing (Males)

LAMA3

• LAMA3 Del/Dup
• LAMA3 Gene Sequencing

LAMB3

• LAMB3 Del/Dup
• LAMB3 Gene Sequencing

LAMC2

• LAMC2 Del/Dup
• LAMC2 Gene Sequencing

LAMP2

• HCM Sequencing Panel
• DCM/LVNC Sequencing Panel

LDB3 (ZASP)

• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

LEFTY2

• Heterotaxy Panel

LGI1

• Adolescent-Onset Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

LHCGR

• Premature Ovarian Failure Sequnecing Panel

LIG4

• Comprehensive SCID Panel
• B-negative SCID Panel

LIPA

• LIPA Del/Dup
• LIPA Gene Sequencing

LMBR1

• ZRS Del/Dup Analysis (Intron 5 of LMBR1 Gene)
• ZRS Sequence Analysis (Intron 5 of LMBR1 Gene)

LMBRD1

• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel

LMNA

• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

LPIN2

• Periodic Fever Syndromes Panel (7 genes)

LRP5

• LRP5 Del/Dup
• LRP5 Gene Sequencing

LRPPRC

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

M Back To Top

MAP2K1

• Noonan Spectrum Disorders Panel
• MAP2K1 Del/Dup
• MAP2K1/MAP2K2 Gene Sequencing
• Prenatal Noonan Spectrum Disorders Panel

MAP2K2

• Noonan Spectrum Disorders Panel
• MAP2K2 Del/Dup
• Prenatal Noonan Spectrum Disorders Panel

MAT1A

• MAT1A Del/Dup
• MAT1A Gene Sequencing

MBTPS2

• MBTPS2 Gene Sequencing

MCCC1

• MCCC1 Del/Dup
• MCCC1 Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

MCCC2

• MCCC2 Del/Dup
• MCCC2 Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

MCEE

• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel

MCOLN1

• MCOLN1 Del/Dup
• MCOLN1 Gene Sequencing
• MCOLN1 Mutation Analysis (Ashkenazi Jewish)

MECP2

• MECP2 Del/Dup
• MECP2 Gene Sequencing
• MECP2 Gene Sequencing & Del/Dup
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

MEFV

• MEFV Select Exons Sequencing
• Periodic Fever Syndromes Panel (7 genes)

MEN1

• MEN1 Del/Dup
• MEN1 Gene Sequencing

MFSD8

• Progressive Myoclonic Epilepsy Panel
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

MLL2

• MLL2 Del/Dup
• MLL2 Gene Sequencing

MLYCD

• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel
• MLYCD Del/Dup
• MLYCD Gene Sequencing

MMAA

• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel
• MMAA Del/Dup
• MMAA Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

MMAB

• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel
• MMAB Del/Dup
• MMAB Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

MMACHC

• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel
• MMACHC Del/Dup
• MMACHC Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

MMADHC (C2ORF25)

• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

MPL

• MPL Del/Dup
• MPL Gene Sequencing

MPV17

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

MRPS16

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

MRPS22

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

MTND1

• DCM/LVNC Sequencing Panel

MTND5

• DCM/LVNC Sequencing Panel

MTND6

• DCM/LVNC Sequencing Panel

MTR

• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel

MTRR

• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel

MTTD Mitochondrial

• DCM/LVNC Sequencing Panel

MTTG

• HCM Sequencing Panel

MTTH

• DCM/LVNC Sequencing Panel

MTTI

• HCM Sequencing Panel
• DCM/LVNC Sequencing Panel

MTTK

• HCM Sequencing Panel
• DCM/LVNC Sequencing Panel

MTTL1

• DCM/LVNC Sequencing Panel

MTTL2

• DCM/LVNC Sequencing Panel

MTTM

• DCM/LVNC Sequencing Panel

MTTQ

• HCM Sequencing Panel
• DCM/LVNC Sequencing Panel

MTTS1

• DCM/LVNC Sequencing Panel

MTTS2

• DCM/LVNC Sequencing Panel

MUT

• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel
• MUT Del/Dup
• MUT Exon 2 Sequencing
• MUT Gene Sequencing
• MUT Remaining Exons Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

MVK

• MVK Del/Dup
• MVK Remaining Exons
• MVK Select Exons
• Periodic Fever Syndromes Panel (7 genes)

MYBPC3

• HCM Sequencing Panel
• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

MYCN

• MYCN Del/Dup
• MYCN Gene Sequencing

MYH11

• Marfan Syndrome/TAAD Sequencing Panel

MYH7

• HCM Sequencing Panel
• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

MYL2

• HCM Sequencing Panel
• Cardiomyopathies Del/Dup Panel

MYL3

• HCM Sequencing Panel
• Cardiomyopathies Del/Dup Panel

MYO7A

• Usher Syndrome Del/Dup Panel
• Usher Syndrome Panel

MYOC

• MYOC Del/Dup
• MYOC Gene Sequencing

N Back To Top

NAGLU

• NAGLU Del/Dup
• NAGLU Gene Sequencing
• Sanfilippo/MPSIII Sequencing Panel

NAGS

• NAGS Del/Dup
• NAGS Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

NCF1 (Exon 2)

• NCF1 (Exon 2) Gene Sequencing
• CGD Tier 1

NCF2

• NCF2 Del/Dup
• NCF2 Gene Sequencing
• CGD Tier2

NDP

• NDP Del/Dup
• NDP Gene Sequencing
• NDP Gene Sequencing & Del/Dup (Females)

NDUFA1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFA10

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFA11

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFA2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFAF1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFAF2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFAF3 (C3ORF60)

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFAF4 (C6ORF66)

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFS1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFS2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFS3

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFS4

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFS6

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFS7

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFS8

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFV1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NDUFV2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NEB

• NEB Exon 55 Deletion
• ACTA1 Gene Sequencing & NEB Mutation Analysis

NEU1

• NEU1 Del/Dup
• NEU1 Gene Sequencing

NEXN

• DCM/LVNC Sequencing Panel

NHEJ1

• Comprehensive SCID Panel
• B-negative SCID Panel

NHLRC1

• Progressive Myoclonic Epilepsy Panel
• Adolescent-Onset Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

NIPBL

• NIPBL Del/Dup
• NIPBL Remaining Exons Sequencing
• NIPBL Select Exons Sequencing
• NIPBL and SMC1A Sequencing and Del/Dup Panel

NKX2-5

• Heterotaxy Panel

NLRP3 (CIAS1)

• NLRP3 Exon 3 Sequencing
• Periodic Fever Syndromes Panel (7 genes)

NOBOX

• Premature Ovarian Failure Sequnecing Panel

NODAL

• Heterotaxy Panel

NPC1

• NPC1 Del/Dup
• NPC1 Gene Sequencing
• NPC1/NPC2 Gene Sequencing

NPC2

• NPC2 Del/Dup
• NPC2 Gene Sequencing
• NPC1/NPC2 Gene Sequencing

NR0B1

• NR0B1 (DAX1) Del/Dup
• NR0B1 (DAX1) Gene Sequencing

NR2E3

• NR2E3 Gene Sequencing

NR5A1

• Premature Ovarian Failure Sequnecing Panel
• NR5A1 Del/Dup
• NR5A1 Gene Sequencing

NRAS

• Noonan Spectrum Disorders Panel
• CBL/NRAS Gene Sequencing

NRXN1

• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

NSD1

• NSD1 Del/Dup
• NSD1 Gene Sequencing & Del/Dup

NTRK1

• NTRK1 Del/Dup
• NTRK1 Gene Sequencing

NUBPL

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

NYX

• NYX Gene Sequencing

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OCRL

• OCRL Del/Dup (Females)
• OCRL Gene Sequencing

OFD1 (CXORF5)

• OFD1 (CXORF5) Del/Dup
• OFD1 Remaining Exons Sequencing
• OFD1 Select Exons Sequencing

OPA1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

OPA3

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel
• Methylglutaconic Aciduria Nuclear Gene Panel

OPTN

• OPTN Del/Dup
• OPTN Gene Sequencing

OTC

• OTC Del/Dup
• OTC Gene Sequencing & Del/Dup (Females)
• OTC Gene Sequencing (Males)
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

OTX2

• OTX2 Del/Dup
• OTX2 Gene Sequencing
• Prenatal Anophthalmia/Microphthalmia Panel & Del/Dup

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PAH

• PAH Del/Dup
• PAH Gene Sequencing

PAX2

• PAX2 Del/Dup
• PAX2 Gene Sequencing
• PAX2 Tier 1
• PAX2 Tier 2

PAX6

• PAX6 Del/Dup
• PAX6 Gene Sequencing & Del/Dup Panel

PC

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• PC Del/Dup
• PC Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

PCCA

• PCCA Del/Dup
• PCCA Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

PCCB

• PCCB Del/Dup
• PCCB Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

PCDH15

• Usher Syndrome Del/Dup Panel
• Usher Syndrome Panel

PCDH19

• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

PDCD10

• PDCD10 Del/Dup
• PDCD10 Gene Sequencing
• CCM Del/Dup Panel
• CCM Tier 2

PDE6A

• arRP Sequencing Panel

PDE6B

• PDE6B Del/Dup
• PDE6B Gene Sequencing
• arRP Del/Dup Panel
• arRP Sequencing Panel

PDHA1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• PDHA1 Del/Dup (Females)
• PDHA1 Gene Sequencing
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

PDHB

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• PDHB Del/Dup
• PDHB Gene Sequencing
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

PDHX

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

PDP1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

PDSS1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• CoEnzyme Q10 Deficiency Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

PDSS2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• CoEnzyme Q10 Deficiency Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

PDX1

• MODY Sequencing Panel

PHEX

• PHEX Del/Dup
• PHEX Gene Sequencing & Del/Dup (Females)
• PHEX Gene Sequencing (Males)

PITX2

• PITX2 Del/Dup
• PITX2 Gene Sequencing

PKP2

• ARVC Del/Dup Panel
• ARVC Sequencing Panel

PLEC1

• PLEC1 Remaining Exons Sequencing
• PLEC1 Select Exons Sequencing

PLN

• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

PNKP

• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

PNP

• B-positive SCID Panel
• Comprehensive SCID Panel

PNPO

• Infantile Epilepsy Panel
• Comprehensive Epilepsy Panel

POLG

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
• POLG Del/Dup
• POLG Gene Sequencing
• Adolescent-Onset Epilepsy Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel
• Methylglutaconic Aciduria Nuclear Gene Panel

POLG2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

POR

• Premature Ovarian Failure Sequnecing Panel
• POR Del/Dup
• POR Gene Sequencing

PORCN

• PORCN Del/Dup
• PORCN Gene Sequencing & Del/Dup

PPT1

• Progressive Myoclonic Epilepsy Panel
• Adolescent-Onset Epilepsy Panel
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

PRICKLE1

• Progressive Myoclonic Epilepsy Panel
• Adolescent-Onset Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

PRKAG2

• HCM Sequencing Panel
• Cardiomyopathies Del/Dup Panel

PRKAR1A

• PRKAR1A Del/Dup
• PRKAR1A Gene Sequencing

PRPF3

• PRPF3 Del/Dup
• PRPF3 Gene Sequencing

PRPF31

• adRP Tier 2
• PRPF31 Del/Dup

PRPF8

• PRPF8 Select Exons Sequencing
• PRPF8Del/Dup
• adRP Tier 1

PRRT2

• PRRT2 Gene Sequencing

PSAP

• PSAP Del/Dup
• PSAP Gene Sequencing

PSMC3IP

• Premature Ovarian Failure Sequnecing Panel

PSTPIP1

• PSTPIP1 Remaining Exons Sequencing
• PSTPIP1 Select Exons Sequencing
• Periodic Fever Syndromes Panel (7 genes)

PTCH1

• PTCH1 Gene Sequencing & Del/Dup

PTEN

• PTEN Del/Dup
• PTEN Gene Sequencing and Del/Dup
• PTEN Promoter Sequencing
• PTEN Promoter Sequencing and Del/Dup

PTPN11

• Noonan Spectrum Disorders Panel
• PTPN11 Del/Dup
• PTPN11 Gene Sequencing
• Prenatal Noonan Spectrum Disorders Panel

PTPRC

• B-positive SCID Panel
• Comprehensive SCID Panel

PTS

• PTS Del/Dup
• PTS Gene Sequencing

PUS1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• PUS1 Del/Dup
• PUS1 Gene Sequencing
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

PYGM

• PYGM Del/Dup
• PYGM Gene Sequencing

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QDPR

• QDPR Del/Dup
• QDPR Gene Sequencing

R Back To Top

RAC2

• Comprehensive SCID Panel
• B-negative SCID Panel

RAF1

• Noonan Spectrum Disorders Panel
• RAF1 Del/Dup
• Prenatal Noonan Spectrum Disorders Panel

RAG1

• Comprehensive SCID Panel
• RAG1 Del/Dup
• RAG1/RAG2 Gene Sequencing
• B-negative SCID Panel

RAG2

• Comprehensive SCID Panel
• RAG2 Del/Dup
• RAG1/RAG2 Gene Sequencing
• B-negative SCID Panel

RAI1

• RAI1 Del/Dup
• RAI1 FISH Deletion Analysis
• RAI1 Gene Sequencing & Del/Dup

RARS2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

RAX

• RAX Gene Sequencing

RBM20

• DCM/LVNC Sequencing Panel

RDH5

• RDH5 Del/Dup
• RDH5 Gene Sequencing

RDS (PRPH2)

• RDS (PRPH2) Del/Dup
• RDS (PRPH2) Gene Sequencing
• Cone-Rod Dystrophy Sequencing Panel
• Stargardt Sequencing Panel
• Stargardt Del/Dup Panel
• adRP Tier 1

RET

• RET Del/Dup
• RET Remaining Exons Sequencing (HSCR)
• RET Remaining Exons Sequencing (MEN2A & MEN2B)
• RET Remaining Exons Sequencing (MEN2A)
• RET Remaining Exons Sequencing (MEN2B)
• RET Select Exons Sequencing (HSCR)
• RET Select Exons Sequencing (MEN2A)
• RET Select Exons Sequencing (MEN2B)

RHO

• RHO Del/Dup
• RHO Gene Sequencing
• adRP Tier 1

RLBP1

• RLBP1 (BRD) Hot Spots
• RLBP1 (NFRCD) Hot Spots
• RLBP1 Del/Dup
• RLBP1 Gene Sequencing

RMRP

• B-positive SCID Panel
• Comprehensive SCID Panel
• RMRP Del/Dup
• RMRP Gene Sequencing

RNASEH2A

• AGS Tier 2
• AGS Panel

RNASEH2B

• AGS Tier 1
• AGS Tier 2
• AGS Panel

RNASEH2C

• RNASEH2C Hot Spots (Pakistani)
• AGS Tier 2
• AGS Panel

RP1

• RP1 Del/Dup
• RP1 Hot Spots
• adRP Tier 1

RP2

• RP2 Del/Dup (Females)
• RP2 Gene Sequencing

RPE65

• LCA Tier 3
• RPE65 Del/Dup
• RPE65 Gene Sequencing
• arRP Del/Dup Panel
• arRP Sequencing Panel

RPGRIP1

• LCA Tier 6

RPL11

• RPL11 Gene Sequencing

RPL5

• RPL5 Gene Sequencing

RPS19

• RPS19 Del/Dup
• RPS19 Gene Sequencing

RRM2B

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

RSK2

• RSK2 (RPS6KA3) Gene Sequencing
• RSK2 (RPS6KA3) Gene Sequencing & Del/Dup
• RSK2 (RPS6KA3) Remaining Exons Sequencing
• RSK2 (RPS6KA3) Select Exons Sequencing

RSK2 (RPS6KA3)

• RSK2 (RPS6KA3) Del/Dup

RYR2

• Sudden Cardiac Arrest Arrhythmia Sequencing Panel
• CPVT Sequencing Panel
• ARVC Del/Dup Panel
• ARVC Sequencing Panel
• Other Arrhythmic Disorders Del/Dup Panel

S Back To Top

SAG

• SAG c.926delA Mutation
• SAG Remaining Exon Sequencing

SALL1

• Prenatal SALL1 Gene Sequencing
• SALL1 Del/Dup
• SALL1 Gene Sequencing

SALL4

• Prenatal SALL4 Gene Sequencing
• SALL4 Del/Dup
• SALL4 Gene Sequencing & Del/Dup

SARS2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

SBDS

• SBDS Gene Sequencing

SCN1A

• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

SCN1B

• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel
• BrS Sequencing Panel
• Other Arrhythmic Disorders Del/Dup Panel

SCN2A

• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

SCN3B

• BrS Sequencing Panel

SCN4B

• LQTS Del/Dup Panel
• LQTS Sequencing Panel

SCN5A

• Sudden Cardiac Arrest Arrhythmia Sequencing Panel
• LQTS Del/Dup Panel
• LQTS Sequencing Panel
• DCM/LVNC Sequencing Panel
• BrS Sequencing Panel
• Other Arrhythmic Disorders Del/Dup Panel

SCN9A

• SCN9A Gene Sequencing

SCO1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

SCO2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

SDHA

• SDHA Gene Sequencing

SDHAF1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

SDHAF2

• SDHAF2 (G78R) Mutation Analysis

SDHB

• SDHB Gene Sequencing
• SDHB, SDHC & SDHD Del/Dup

SDHC

• SDHC Gene Sequencing
• SDHB, SDHC & SDHD Del/Dup

SDHD

• SDHD Gene Sequencing
• SDHB, SDHC & SDHD Del/Dup

SERPING1 (C1INH)

• SERPING1 (C1INH) Del/Dup
• SERPING1 (C1INH) Gene Sequencing & Del/Dup

SGCD

• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

SGSH

• SGSH Del/Dup
• SGSH Gene Sequencing
• Sanfilippo/MPSIII Sequencing Panel

SH3BP2

• SH3BP2 Gene Sequencing

SHH

• SHH Del/Dup
• Holoprosencephaly Panel & Del/Dup
• Prenatal Holoprosencephaly Panel & Del/Dup

SHOC2

• Noonan Spectrum Disorders Panel
• SHOC2 Gene Sequencing
• Prenatal Noonan Spectrum Disorders Panel

SIX1

• SIX1 Del/Dup
• SIX1 Gene Sequencing

SIX3

• SIX3 Del/Dup
• Holoprosencephaly Panel & Del/Dup
• Prenatal Holoprosencephaly Panel & Del/Dup

SIX6

• SIX6 Del/Dup

SLC17A5

• SLC17A5 Del/Dup
• SLC17A5 Gene Sequencing & Del/Dup

SLC22A5

• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• SLC22A5 Del/Dup
• SLC22A5 Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

SLC25A13

• SLC25A13 Del/Dup
• SLC25A13 Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

SLC25A15

• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

SLC25A20

• Fatty Acid Oxidation Disorders Sequencing Panel
• Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel
• SLC25A20 Del/Dup
• SLC25A20 Gene Sequencing
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

SLC25A22

• Infantile Epilepsy Panel
• Comprehensive Epilepsy Panel

SLC25A3 (PHC)

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

SLC25A4

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

SLC26A4

• SLC26A4 Gene Sequencing

SLC2A1

• Adolescent-Onset Epilepsy Panel
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

SLC2A10

• Marfan Syndrome/TAAD Sequencing Panel

SLC7A7

• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel

SLC9A6

• SLC9A6 Gene Sequencing
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

SMAD3

• Marfan Syndrome/TAAD Sequencing Panel

SMAD4

• JPS Del/Dup Analysis
• JPS Tier 1

SMC1A

• SMC1A Del/Dup
• SMC1A Gene Sequencing
• NIPBL and SMC1A Sequencing and Del/Dup Panel

SMPD1

• SMPD1 Del/Dup
• SMPD1 Gene Sequencing
• SMPD1 Hot Spots

SNTA1

• LQTS Del/Dup Panel
• LQTS Sequencing Panel

SOS1

• Noonan Spectrum Disorders Panel
• SOS1 Gene Sequencing
• Prenatal Noonan Spectrum Disorders Panel

SOX2

• SOX2 Del/Dup
• SOX2 Gene Sequencing
• Prenatal Anophthalmia/Microphthalmia Panel & Del/Dup

SOX9

• Prenatal SOX9 Gene Sequencing and Del/Dup
• SOX9 Del/Dup
• SOX9 Gene Sequencing

SPG7

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

SPINK5

• SPINK5 Del/Dup
• SPINK5 Gene Sequencing

SPTAN1

• Infantile Epilepsy Panel
• Comprehensive Epilepsy Panel

SRD5A2

• Prenatal SRD5A2 Gene Sequencing
• SRD5A2 Del/Dup
• SRD5A2 Gene Sequencing

SRPX2

• Comprehensive Epilepsy Panel

SRY

• Prenatal SRY Gene Sequencing
• SRY Deletion FISH
• SRY Gene Sequencing

STAT3

• STAT3 Gene Sequencing
• STAT3 Remaining Exons Sequencing
• STAT3 Select Exons Sequencing

STK11

• STK11 Gene Sequencing & Del/Dup

STRA6

• STRA6 Gene Sequencing

STXBP1

• Infantile Epilepsy Panel
• Comprehensive Epilepsy Panel

SUCLA2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel
• Mitochondrial Complex I Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel
• Methylglutaconic Aciduria Nuclear Gene Panel

SUCLG1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
• Reflex Del/Dup Testing After MMA and Related Disorders Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

SUMF1

• SUMF1 Del/Dup
• SUMF1 Gene Sequencing

SURF1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

SYN1

• Adolescent-Onset Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

T Back To Top

TACO1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Complex IV Deficiency Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

TAT

• TAT Del/Dup
• TAT Gene Sequencing

TAZ

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel
• Methylglutaconic Aciduria Nuclear Gene Panel

TBX1

• DGS/VCFS Deletion FISH Analysis
• TBX1 Del/Dup
• TBX1 Gene Sequencing

TBX5

• Prenatal TBX5 Gene Sequencing
• TBX5 Del/Dup
• TBX5 Gene Sequencing

TCAP

• DCM/LVNC Sequencing Panel

TCF4

• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

TCOF1

• TCOF1 Del/Dup
• TCOF1 Gene Sequencing

TERC

• TERC Del/Dup
• TERC Gene Sequencing

TERT

• TERT Gene Sequencing

TGFBR1

• Marfan Syndrome/TAAD Sequencing Panel
• TGFBR1 Gene Sequencing
• Loeys-Dietz Syndrome Panel
• Marfan, Loeys-Dietz, and Related Disorders Del/Dup Panel

TGFBR2

• Marfan Syndrome/TAAD Sequencing Panel
• Loeys-Dietz Syndrome Panel
• Marfan, Loeys-Dietz, and Related Disorders Del/Dup Panel

TGIF

• Holoprosencephaly Panel & Del/Dup
• Prenatal Holoprosencephaly Panel & Del/Dup

TGM1

• TGM1 Del/Dup
• TGM1 Gene Sequencing

TH

• TH Del/Dup
• TH Gene Sequencing

TIMM8A

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

TINF2

• TINF2 Del/Dup
• TINF2 Exon 6 Sequencing

TK2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

TMEM126A

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

TMEM127

• TMEM127 Gene Sequencing

TMEM43

• ARVC Del/Dup Panel
• ARVC Sequencing Panel

TMEM70

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel
• Reflex Del/Dup Testing after Hyperammonemia Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel
• Methylglutaconic Aciduria Nuclear Gene Panel

TNFRSF1A

• TNFRSF1A Select Exons Sequencing
• Periodic Fever Syndromes Panel (7 genes)

TNNC1

• HCM Sequencing Panel
• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

TNNI3

• HCM Sequencing Panel
• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

TNNT2

• HCM Sequencing Panel
• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

TP53

• TP53 Del/Dup
• TP53 Gene Sequencing

TP63 (TP73L)

• Prenatal TP73L (TP63) Gene Sequencing
• TP63 Del/Dup
• TP63 Remaining Exons Sequencing
• TP63 Select Exons Sequencing

TPM1

• HCM Sequencing Panel
• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

TPP1 (CLN2)

• Progressive Myoclonic Epilepsy Panel
• TPP1 Del/Dup
• TPP1 Gene Sequencing
• Adolescent-Onset Epilepsy Panel
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

TREX1

• AGS Tier 1
• AGS Panel

TRMU

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

TRPM1

• TRPM1 Gene Sequencing

TSC1

• Infantile Epilepsy Panel
• Comprehensive Epilepsy Panel

TSC2

• Infantile Epilepsy Panel
• Comprehensive Epilepsy Panel

TSFM

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

TSPAN12

• TSPAN12 Gene Sequencing

TTC19

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

TTN

• DCM/LVNC Sequencing Panel

TTR

• HCM Sequencing Panel
• TTR Del/Dup
• TTR Gene Sequencing
• Cardiomyopathies Del/Dup Panel
• DCM/LVNC Sequencing Panel

TUFM

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

TYMP

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• MtDNA Depletion/Multiple Deletions Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
• Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

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UBE3A

• UBE3A Del/Dup
• UBE3A Gene Sequencing
• UBE3A Gene Sequencing & Del/Dup
• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

UNG

• UNG Gene Sequencing

UQCRB

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

UQCRQ

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

USH1C

• Usher Syndrome Del/Dup Panel
• Usher Syndrome Panel

USH1G

• Usher Syndrome Del/Dup Panel
• Usher Syndrome Panel

USH2A

• arRP Del/Dup Panel
• arRP Sequencing Panel
• Usher Syndrome Del/Dup Panel
• Usher Syndrome Panel

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VCL

• DCM/LVNC Sequencing Panel

VHL

• VHL Gene Sequencing
• VHL Gene Sequencing & Del/Dup

VPS13B (COH1)

• VPS13B (COH1) Del/Dup
• VPS13B (COH1) Gene Sequencing
• VPS13B (COH1) Targeted (Finnish mutation) Gene Sequencing

VSX2 (CHX10)

• VSX2 (CHX10) Gene Sequencing
• Prenatal Anophthalmia/Microphthalmia Panel & Del/Dup

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WAS

• WAS Del/Dup
• WAS Gene Sequencing

WFS1

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

WNT10A

• WNT10A Del/Dup
• WNT10A Gene Sequencing

WT1

• PAX6 Gene Sequencing & Del/Dup Panel

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XLRS1 (RS1)

• XLRS1 (RS1) Del/Dup (Females)
• XLRS1 (RS1) Gene Sequencing

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YARS2

• Combined Mito Genome Plus Mito 101 Nuclear Gene Panel
• Comprehensive Mitochondrial Nuclear Gene Panel
• Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel
• Oxidative Phosphorylation Deficiency Nuclear Gene Panel

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ZAP70

• B-positive SCID Panel
• Comprehensive SCID Panel

ZEB2

• Infantile Epilepsy Panel
• Childhood-Onset Epilepsy Panel
• Comprehensive Epilepsy Panel

ZIC2

• ZIC2 Del/Dup
• Holoprosencephaly Panel & Del/Dup
• Prenatal Holoprosencephaly Panel & Del/Dup

ZIC3

• Heterotaxy Panel

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