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.
Test Code | Test Name | TAT | Genes |
---|---|---|---|
Test Code: 9500 | Test Name: ExomeNext-Select |
TAT
|
up to 500
|
Test Code: 9999R | Test Name: ExomeNext-Rapid® |
TAT
|
~ 20,000 |
Test Code: 9997 | Test Name: Sequencing plus raw data only |
TAT
|
~ 20,000 |
Test Code: 9998 | Test Name: Sequencing plus raw data and filtered variant list (no analysis) |
TAT
|
~ 20,000 |
Test Code: 9993 | Test Name: ExomeNext-Proband™ |
TAT
|
~ 20,000 |
Test Code: 9994 | Test Name: ExomeNext-Proband plus mtDNA |
TAT
|
~ 20,000 |
Test Code: 9995 | Test Name: ExomeNext-Trio™ |
TAT
|
~ 20,000 |
Test Code: 9996 | Test Name: ExomeNext-Trio plus mtDNA |
TAT
|
~ 20,000 |
Test Code: 9991 | Test Name: ExomeNext-Duo™ |
TAT
|
~ 20,000 |
Test Code: 9992 | Test Name: ExomeNext-Duo plus mtDNA |
TAT
|
~ 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.; |
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 ListClick on the link below to see list of mtDNA mutations that we cover.
View Mutationsfor all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing 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 report date. Whenever possible, more closely related relatives should be tested before more distant relatives.
Order NowFor 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.
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.
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.
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 |
CALM1 | Long QT syndrome |
CALM2 | Long QT syndrome, Catecholaminergic polymorphic ventricular tachycardia |
CALM3 | Long QT syndrome, Catecholaminergic polymorphic ventricular tachycardia |
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 |
[1] Only report homozygous or when 2 V(L)P variants present
Updated August 2023 per ACMG v3.2 list for reporting of secondary findings in clinical exome and genome sequencing. doi: 10.1016/j.gim.2023.100866