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GenepoweRx_Diabetes Care
Clinical Genetic Test
Help
offered by
GenepoweRx
GTR Test Accession: Help GTR000607894.1
INHERITED DISEASEDIGESTIVE SYSTEMENDOCRINOLOGY ... View more
Last updated in GTR: 2023-06-08
View version history
Last annual review date for the lab: 2023-05-19 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (17): Help
Maturity onset diabetes mellitus in young; Diabetes mellitus type 1; Dilated cardiomyopathy 1A; ...
Genes (41): Help
ABCC8 (11p15.1), ACADS (12q24.31), AKT2 (19q13.2), AQP2 (12q13.12), AVP (20p13), ...
Methods (4): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Individuals with clinical symptoms consistent with Diabetes Mellitus or with …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
GenepoweRx
View lab's website
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
KHMDCVGPDRM1
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 17
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 41
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 4
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Detection of homozygosity
Oligonucleotide hybridization-based DNA sequencing
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Prognostic; Risk Assessment; Screening; Therapeutic management
Target population: Help
Individuals with clinical symptoms consistent with Diabetes Mellitus or with a family history of Diabetes Mellitus or individuals with distorted lifestyle factors
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Repeatability and reproducibility of alterations associated with this test were evaluated. The results confirmed that the test is robust regarding the repeatability and reproducibility in terms of variant calling. Across all samples, the pre-sequencing process failure was ≤ 1%. All variants from all samples were consistent by >99.9%.
View citations (1)
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.