Whole Genome Sequencing (WGS) Critical Genetics Report Description
NutraHacker reports mutations in your raw Whole Genome Sequencing (WGS) DNA data (BAM/CRAM 30x+) that have been identified as having high penetrance and actionability.
Over 13,000 locations covering 81 genes are examined in this report, making it very comprehensive.
This is a tool that casts a wide net, it catches critical snps as well as ones that may not be considered critical.
Due to the filtering aspects of this report, the amount will be few enough that they can be personally assessed.
Hits need to be personally investigated to determine if it is a true hit/ critical allele or a risk factor.
Hits may be risk factors for other conditions, the risk factor should match to the condition of interest to be a true critical hit.
To test the DEMO for the WGS Critical Genetics Dynamic Tables click here.
Upload Whole Genome Sequencing (WGS) raw DNA data today and take a deep dive into your genome!
The 48 conditions examined in this report include:
* NutraHacker declares no affiliation, financial ties, sponsorship, nor any partnership in any form with the American College of Medical Genetics and Genomics (ACMG). NutraHacker is not your physician, is not attempting to practice medicine, and is not to be considered genetic counseling. See a medical geneticist if genetic counseling is desired. NOTHING within this report is to be interpreted or construed as a diagnosis. Also, no therapies or treatments are explicitly encouraged or discouraged. Any wording of a disease, disorder, or condition is related to information pertinent to said condition but is not the condition itself. No condition is confirmed as present (diagnosed) or eliminated as a possible diagnosis.
Over 13,000 locations covering 81 genes are examined in this report, making it very comprehensive.
This is a tool that casts a wide net, it catches critical snps as well as ones that may not be considered critical.
Due to the filtering aspects of this report, the amount will be few enough that they can be personally assessed.
Hits need to be personally investigated to determine if it is a true hit/ critical allele or a risk factor.
Hits may be risk factors for other conditions, the risk factor should match to the condition of interest to be a true critical hit.
- Covers all 48 conditions selected by ACMG for penetrance and actionability
- Covers all 81 genes listed in ACMG v3.2
- Only single nucleotide variants identified as being indicative of a possible pathology have been selected
- Insertions and deletions will be included in a near future update
- Updated yearly due to ACMG yearly improvements
- Link to actionable information included for each condition
- Inheritance pattern information included for many locations
- Research text and citations also included on many locations
- LIFETIME PURCHASE includes ALL future updates at no extra cost.
To test the DEMO for the WGS Critical Genetics Dynamic Tables click here.
Upload Whole Genome Sequencing (WGS) raw DNA data today and take a deep dive into your genome!
The 48 conditions examined in this report include:
- Arrhythmogenic right ventricular cardiomyopathy
- Biotinidase deficiency
- Brugada syndrome
- Catecholaminergic polymorphic ventricular tachycardia
- Dilated cardiomyopathy
- Ehlers-Danlos syndrome, vascular type
- Fabry disease
- Familial adenomatous polyposis
- Familial hypercholesterolemia
- Familial medullary thyroid cancer
- Familial thoracic aortic aneurysm
- Hereditary breast and ovarian cancer
- Hereditary breast cancer
- Hereditary hemochromatosis
- Hereditary hemorrhagic telangiectasia
- Juvenile polyposis syndrome
- Hereditary paraganglioma-pheochromocytoma syndrome
- Hereditary transthyretin-related amyloidosis
- Hypertrophic cardiomyopathy
- Li-Fraumeni syndrome
- Loeys-Dietz syndrome
- Long QT syndrome
- Long-QT syndrome type 1
- Long-QT syndrome type 2
- Long QT syndrome type 3
- Long-QT syndrome type 14
- Long-QT syndrome type 15
- Long-QT syndrome type 16
- Lynch syndrome
- Malignant hyperthermia
- Marfan syndrome
- Maturity-Onset of Diabetes of the Young
- Multiple endocrine neoplasia type 1
- Multiple endocrine neoplasia type 2A
- Multiple endocrine neoplasia type 2B
- MUTYH-associated polyposis
- Myofibrillar myopathy
- NF2-related schwannomatosis
- Ornithine transcarbamylase deficiency
- Peutz-Jeghers syndrome
- Pompe Disease
- PTEN hamartoma tumor syndrome
- Retinoblastoma
- RPE65-related retinopathy
- Tuberous sclerosis complex
- Von Hippel–Lindau syndrome
- Wilson disease
- WT1-related Wilms tumor
- ACTA2
- ACTC1
- ACVRL1
- APC
- APOB
- ATP7B
- BAG3
- BMPR1A
- BRCA1
- BRCA2
- BTD
- CACNA1S
- CALM1
- CALM2
- CALM3
- CASQ2
- COL3A1
- DES
- DSC2
- DSG2
- DSP
- ENG
- FBN1
- FLNC
- GAA
- GLA
- HFE
- HNF1A
- KCNH2
- KCNQ1
- LDLR
- LMNA
- MAX
- MEN1
- MLH1
- MSH2
- MSH6
- MUTYH
- MYBPC3
- MYH11
- MYH7
- MYL2
- MYL3
- NF2
- OTC
- PALB2
- PCSK9
- PKP2
- PMS2
- PRKAG2
- PTEN
- RB1
- RBM20
- RET
- RPE65
- RYR1
- RYR2
- SCN5A
- SDHAF2
- SDHB
- SDHC
- SDHD
- SMAD3
- SMAD4
- STK11
- TGFBR1
- TGFBR2
- TMEM127
- TMEM43
- TNNC1
- TNNI3
- TNNT2
- TP53
- TPM1
- TRDN
- TSC1
- TSC2
- TTN
- TTR
- VHL
- WT1
* NutraHacker declares no affiliation, financial ties, sponsorship, nor any partnership in any form with the American College of Medical Genetics and Genomics (ACMG). NutraHacker is not your physician, is not attempting to practice medicine, and is not to be considered genetic counseling. See a medical geneticist if genetic counseling is desired. NOTHING within this report is to be interpreted or construed as a diagnosis. Also, no therapies or treatments are explicitly encouraged or discouraged. Any wording of a disease, disorder, or condition is related to information pertinent to said condition but is not the condition itself. No condition is confirmed as present (diagnosed) or eliminated as a possible diagnosis.