Anosmic Kallmann/IHH Evaluation
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000515390.1
INHERITED DISEASEENDOCRINOLOGYREPRODUCTIVE HEALTH ... View more
Last updated in GTR: 2014-08-11
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Predictive
Hypogonadotropic hypogonadism 7 with or without anosmia; Hypogonadotropic hypogonadism 1 with or without anosmia; Hypogonadotropic hypogonadism 2 with or without anosmia; ...
Genes (7): Help
ANOS1 (Xp22.31), FGF8 (10q24.32), FGFR1 (8p11.23), GNRHR (4q13.2), KISS1R (19p13.3), ...
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Athena Diagnostics Inc
View lab's website
Test Order Code: Help
462
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 7
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 7
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Predictive
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity, specificity and accuracy are = 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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