ExomeNext®

The world of genetics and our understanding of genetic causes for disease is rapidly changing. ExomeNext is a comprehensive test analyzing all ~20,000 genes, providing detailed information on novel discoveries to improve patient outcomes.

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ExomeNext Prenatal/Fetal Required Supplemental Form

Exome Re-analysis Test Requisition Form

ExomeNext Reference Guide

Supplemental Data Consent

Clinical Genomics Test Requisition Form

Clinical Genomics Family Member Test Requisition Form

Quick Reference

Test Code	Test Name	TAT	Genes
Test Code: 9500	Test Name: ExomeNext-Select	TAT 2-4 weeks	up to 500
Test Code: 9999R	Test Name: ExomeNext-Rapid®	TAT 14-18 days ^[1]	^~ 20,000
Test Code: 9997	Test Name: Sequencing plus raw data only	TAT 4-6 weeks	^~ 20,000
Test Code: 9998	Test Name: Sequencing plus raw data and filtered variant list (no analysis)	TAT 4-6 weeks	^~ 20,000
Test Code: 9993	Test Name: ExomeNext-Proband™	TAT 6-8 weeks	^~ 20,000
Test Code: 9994	Test Name: ExomeNext-Proband plus mtDNA	TAT 6-8 weeks	^~ 20,000
Test Code: 9995	Test Name: ExomeNext-Trio™	TAT 6-8 weeks	^~ 20,000
Test Code: 9996	Test Name: ExomeNext-Trio plus mtDNA	TAT 6-8 weeks	^~ 20,000
Test Code: 9991	Test Name: ExomeNext-Duo™	TAT 6-8 weeks	^~ 20,000
Test Code: 9992	Test Name: ExomeNext-Duo plus mtDNA	TAT 6-8 weeks	^~ 20,000
1. TAT is for trio exome orders with Blood EDTA specimens. TAT may be extended in rare instances when reruns are required. Non-trio orders and alternative specimen types may have extended TATs.;

ACMG Secondary Findings Gene List Compliance

Our exome panel includes all of the genes listed on the ACMG (American College of Medical Genetics and Genomics) gene list for the reporting of secondary findings. We remain up to date with the latest guidelines for genetic testing to strengthen patient medical management and health outcomes.

View ACMG Gene List

mtDNA Mutation List

Click on the link below to see list of mtDNA mutations that we cover.

View Mutations

Ordering Options

AmbryPort Login or Create an Account

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View Specimen Requirements

We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original Ambry report date.

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*excludes Secondary Findings and SNP Array tests

Patient for Life Program

For patients undergoing this test, Ambry will continually review data for potential pathogenic or likely pathogenic variants in newly characterized genes and will proactively issue reclassification reports, as applicable. Ask your Genomic Science Liaison for more details.

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Why Is This Important?

The world of genetics is rapidly changing. ExomeNext is a comprehensive test analyzing all ~20,000 genes, where up to three family members are tested at once. Most families undergoing exome analysis do not have a clear diagnosis. This family-centered approach to exome analysis, along with reliable data duration, has provided answers to many otherwise undiagnosed families.

When To Consider Testing

Prior testing has been negative: When a suspected condition has become a “diagnostic odyssey” and prior testing has not identified a genetic explanation
No testing available: Limited or no comprehensive tests available for the patients suspected condition
Unclear differential diagnosis: Clinical presentation does not correspond with a known genetic disorder or multiple genes may be involved

Test Description

ExomeNext-Proband: This test includes whole exome sequencing of the Proband (patient of interest) using next generation sequencing methods targeted to the ~20,000 nuclear genes. Genetic alterations are filtered through our in-house bioinformatics pipeline and analyzed by our medical team. Alterations among Characterized genes are reviewed to determine pathogenicity and clinical correlation with the patient’s clinical symptoms. Relevant alterations that meet quality thresholds are reported. Family members may be used for co-segregation confirmation studies if submitted at the time of testing. Secondary findings are reported per patient preferences.

ExomeNext-Proband plus mtDNA: This test includes whole exome sequencing of Proband (patient of interest) using next generation sequencing methods targeted to the ~20,000 nuclear genes. Sequencing of the mitochondrial (mtDNA) genome is also performed. Genetic alterations are filtered through our in-house bioinformatics pipeline and analyzed by our medical team. Alterations among Characterized genes are reviewed to determine pathogenicity and clinical correlation with the patient’s clinical symptoms. The mitochondrial genome is also analyzed for a defined list of established disease-causing mutations. Family members may be used for co-segregation confirmation studies if submitted at the time of testing. Relevant alterations that meet quality thresholds are reported. Secondary findings are reported per patient preferences.

ExomeNext-Duo/Trio: This test includes whole exome sequencing of the Duo [Proband (patient of interest) plus one first-degree relative, usually one of the biological parent] or Trio [Proband (patient of interest) plus two first-degree relatives, usually the biological parents] using next generation sequencing methods targeted to the ~20,000 nuclear genes. Genetic alterations are filtered through our in-house bioinformatics pipeline and analyzed by our medical team. Each alteration is reviewed to determine its pathogenicity and clinical correlation with the patient’s clinical symptoms. Family members may be used for co-segregation confirmation studies. Relevant alterations that meet quality thresholds are reported. Secondary findings are available for all members of the duo/trio and reported per patient preferences.

ExomeNext-Duo/Trio plus mtDNA: This test includes whole exome sequencing of the Duo [Proband (patient of interest) plus one first-degree relative, usually one of the biological parent)] or Trio [Proband (patient of interest) plus two first-degree relatives, usually the biological parents] using next generation sequencing methods targeted to the ~20,000 nuclear genes. Sequencing of the mitochondrial (mtDNA) genome is also performed. Genetic alterations are filtered through our in-house bioinformatics pipeline and analyzed by our medical team. Each alteration is reviewed to determine its pathogenicity and clinical correlation with the patient’s clinical symptoms. The mitochondrial genome is also analyzed for a defined list of established disease-causing mutations. Family members may be used for co-segregation confirmation studies. Relevant alterations that meet quality thresholds are reported. Secondary findings are available for all members of the duo/trio and reported per patient preferences.

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Ordering Options

AmbryPort Login or Create an Account

Order a Sample Kit

View Specimen Requirements

We offer family variant testing at no additional cost

Order Now

*excludes Secondary Findings and SNP Array tests

Patient for Life Program

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HGVS	HUGO Gene Name	Disease
m.583G>A	MT-TF	MELAS / MM & EXIT
m.1494C>T	MT-RNR1	DEAF
m.1555A>G	MT-RNR1	DEAF
m.1606G>A	MT-TV	AMDF
m.1644G>A	MT-TV	HCM+MELAS
m.3243A>G	MT-TL1	MELAS / LS/DMDF / MIDD / SNHL / FSGS / CPEO
m.3251A>G	MT-TL1	MELAS
m.3252A>G	MT-TL1	MELAS
m.3256C>T	MT-TL1	MELAS
m.3260A>G	MT-TL1	MMC
m.3271T>C	MT-TL1	MELAS
m.3291T>C	MT-TL1	MELAS / Myopathy / Deafness+Cognitive Impairment
m.3302A>G	MT-TL1	MM
m.3303C>T	MT-TL1	MMC
m.3460G>A	MT-ND1	LHON
m.3635G>A	MT-ND1	LHON
m.3697G>A	MT-ND1	MELAS/LS/LDYT
m.3700G>A	MT-ND1	LHON
m.3733G>A	MT-ND1	LHON
m.3890G>A	MT-ND1	Progressive encephalomyopathy / LS / optic atrophy
m.4171C>A	MT-ND1	LHON
m.4269A>G	MT-TI	FICP
m.4274T>C	MT-TI	CPEO/Motor Neuron Disease
m.4298G>A	MT-TI	CPEO / MS
m.4300A>G	MT-TI	MICM
m.4308G>A	MT-TI	CPEO
m.4332G>A	MT-TQ	Encephalopathy / MELAS
m.5537_5538insT	MT-TW	Leigh Syndrome
m.5650G>A	MT-TA	Myopathy
m.5703G>A	MT-TN	CPEO/MM
m.7222A>G	MT-CO1	peripheral neuropathy, muscle weakness, ptosis, abnormal muscle pathology
m.7445A>G	MT-TS1	SNHL
m.7471dupC	MT-TS1	PEM/AMDF/Motor neuron disease-like
m.7497G>A	MT-TS1	MM / EXIT
m.7511T>C	MT-TS1	SNHL
m.8344A>G	MT-TK	MERRF
m.8356T>C	MT-TK	MERRF
m.8363G>A	MT-TK	MICM+DEAF/ MERRF/ Autism/ LS/ Ataxia+Lipomas
m.8969G>A	MT-ATP6	Mitochondrial Myopathy, Lactic Acidosis,
m.8993T>C	MT-ATP6	NARP/Leigh Disease/MILS/other
m.8993T>G	MT-ATP6	NARP/Leigh Disease/MILS/other
m.9176T>C	MT-ATP6	FBSN/Leigh Disease
m.9176T>G	MT-ATP6	Leigh Disease/Spastic Paraplegia
m.9185T>C	MT-ATP6	Leigh Disease/Ataxia/NARP-like disease
m.10010T>C	MT-TG	PEM
m.10158T>C	MT-ND3	Leigh Disease
m.10191 T>C	MT-ND3	Leigh Disease/Leigh-like Disease/ESOC
m.10197G>A	MT-ND3	Leigh Disease/Dystonia/Stroke/LDYT
m.10663T>C	MT-ND4L	LHON
m.11777C>A	MT-ND4	Leigh Disease
m.11778G>A	MT-ND4	LHON, Progressive Dystonia
m.12147G>A	MT-TH	MERRF-MELAS/Enchephalopathy
m.12258C>A	MT-TS2	DMDF / RP+SNHL
m.12315G>A	MT-TL2	CPEO/KSS
m.12320A>G	MT-TL2	Myopatrhy
m.12706T>C	MT-ND5	Leigh Disease
m.13513G>A	MT-ND5	Leigh Disease/MELAS/LHON-MELAS Overlap Syndrome
m.13514A>G	MT-ND5	Leigh Disease/MELAS
m.14459G>A	MT-ND6	LDYT/Leigh Disease
m.14482C>G	MT-ND6	LHON
m.14484T>C	MT-ND6	LHON
m.14487T>C	MT-ND6	Dystonia/Leigh Disease/Ataxia
m.14495A>G	MT-ND6	LHON
m.14568C<T	MT-ND6	LHON
m.14674T>C	MT-TE	Reversible COX deficiency myopathy
m.14709T>C	MT-TE	MM+DMDF / Encephalomyopathy
m.14849T>C	MT-CYB	EXIT / Septo-Optic Dysplasia
m.15579A>G	MT-CYB	Multisystem Disorder, EXIT

ACTA2	Thoracic aortic aneurysms and dissections
ACTC1	Cardiomyopathy
ACVRL1	Hereditary hemorrhagic telangiectasia
APC	Familial adenomatous polyposis
APOB	Familial hypercholesterolemia
ATP7B^[1]	Wilson disease
BAG3	Cardiomyopathy
BMPR1A	Juvenile polyposis syndrome
BRCA1	Hereditary breast and ovarian cancer
BRCA2	Hereditary breast and ovarian cancer
BTD^[1]	Biotinidase deficiency
CACNA1S	Malignant hyperthermia susceptibility
CASQ2^[1]	Catecholaminergic polymorphic ventricular cardiomyopathy
COL3A1	Ehlers-Danlos syndrome, vascular type
DES	Cardiomyopathy
DSC2	Arrhythmogenic right ventricular tachycardia
DSG2	Arrhythmogenic right ventricular tachycardia
DSP	Arrhythmogenic right ventricular tachycardia
ENG	Hereditary hemorrhagic telangiectasia
FBN1	Marfan syndrome
FLNC	Cardiomyopathy
GAA^[1]	Pompe disease
GLA	Fabry disease
HFE[1] (single alteration)	Hereditary hemochromatosis
HNF1A^[1]	Maturity-onset diabetes of the young
KCNH2	Long QT syndrome
KCNQ1	Long QT syndrome
LDLR	Familial hypercholesterolemia
LMNA	Cardiomyopathy
MAX	Hereditary paraganglioma-pheochromocytoma syndrome
MEN1	Multiple endocrine neoplasia type 1
MLH1	Lynch syndrome
MSH2	Lynch syndrome
MSH6	Lynch syndrome
MUTYH^[1]	MUTYH-associated polyposis
MYBPC3	Cardiomyopathy
MYH11	Thoracic aortic aneurysms and dissections
MYH7	Cardiomyopathy
MYL2	Cardiomyopathy
MYL3	Cardiomyopathy
NF2	Neurofibromatosis type 2
OTC	Ornithine transcarbamylase deficiency
PALB2	Hereditary breast and ovarian cancer
PCSK9	Familial hypercholesterolemia
PKP2	Arrhythmogenic right ventricular tachycardia
PMS2	Lynch syndrome
PRKAG2	Cardiomyopathy
PTEN	PTEN hamartoma tumor syndrome
RB1	Retinoblastoma
RBM20	Cardiomyopathy
RET	Multiple endocrine neoplasia type 2; Familial medullary thyroid cancer (FMTC)
RPE65^[1]	RPE65-related retinopathy
RYR1	Malignant hyperthermia susceptibility
RYR2	Catecholaminergic polymorphic ventricular cardiomyopathy
SCN5A	Long QT syndrome, Brugada syndrome
SDHAF2	Hereditary paraganglioma-pheochromocytoma syndrome
SDHB	Hereditary paraganglioma-pheochromocytoma syndrome
SDHC	Hereditary paraganglioma-pheochromocytoma syndrome
SDHD	Hereditary paraganglioma-pheochromocytoma syndrome
SMAD3	Loeys-Dietz syndrome
SMAD4	Juvenile polyposis syndrome
STK11	Peutz-Jeghers syndrome
TGFBR1	Loeys-Dietz syndrome
TGFBR2	Loeys-Dietz syndrome
TMEM127	Hereditary paraganglioma-pheochromocytoma syndrome
TMEM43	Arrhythmogenic right ventricular tachycardia
TNNC1	Cardiomyopathy
TNNI3	Cardiomyopathy
TNNT2	Cardiomyopathy
TP53	Li-Fraumeni syndrome
TPM1	Cardiomyopathy
TRDN^[1]	Catecholaminergic polymorphic ventricular cardiomyopathy
TSC1	Tuberous sclerosis complex
TSC2	Tuberous sclerosis complex
TTN	Cardiomyopathy
TTR	Hereditary transthyretin-related amyloidosis
VHL	von Hippel Lindau syndrome
WT1	WT1-related Wilms tumor

ExomeNext®

Downloads

ACMG Secondary Findings Gene List Compliance

mtDNA Mutation List

Ordering Options

We offer family variant testing at no additional cost

Patient for Life Program

Why Is This Important?

When To Consider Testing

Test Description

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