GTR Test Accession:
Help
GTR000606066.1
Registered in GTR:
2023-04-27
View version history
GTR000606066.1,
registered in GTR:
2023-04-27
Last annual review date for the lab: 2024-07-01
LinkOut
At a Glance
Methods (1):
Help
Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with rare disease condition
Clinical validity:
Help
This panel should be performed in all individuals suspected of …
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Test short name:
Help
KISS1 Gene Hypogonadotropic hypogonadism NGS Genetic DNA Test
Manufacturer's name:
Help
KISS1 Gene Hypogonadotropic hypogonadism NGS Genetic DNA Test
Lab contact:
Help
How to Order:
Help
Just place order online with doctor prescription
Order URL
Order URL
Test development:
Help
FDA-reviewed (has FDA test name)
Informed consent required:
Help
Yes
Pre-test genetic counseling required:
Help
Yes
Post-test genetic counseling required:
Help
Yes
Recommended fields not provided:
Test Order Code,
Specimen source,
Contact policy,
Test strategy
Conditions
Help
Total conditions: 1
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose:
Help
Screening
Clinical validity:
Help
This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk …
View more
Target population:
Help
Patients with rare disease condition
Recommended fields not provided:
Clinical utility,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
Help
Human Whole Exome Sequencing
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
Accuracy and specificity>99%
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
No
No
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
Help
Not provided
Additional Information
Reviews:
Clinical resources:
Practice guidelines:
Consumer resources:
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.