Combined Pituitary Hormone Deficiency Genetic Panel
GTR Test Accession: Help GTR000592304.1
INHERITED DISEASEENDOCRINOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2020-12-17
Last annual review date for the lab: 2023-08-03 LinkOut
At a Glance
Diagnosis
Intellectual disability, X-linked, with panhypopituitarism; Anophthalmia/microphthalmia-esophageal atresia syndrome; Hypogonadotropic hypogonadism 3 with or without anosmia more...
GLI1 (12q13.3); HESX1 (3p14.3); LHX3 (9q34.3); LHX4 (1q25.2); OTX2 (14q22.3) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
MNG Laboratories (Medical Neurogenetics, LLC.)
View lab's website
View lab's test page
Test short name: Help
Pituitary Hormone Defic. Panel
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
630534
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:
Conditions Help
Total conditions: 12
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 10
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Greater than 99% sensitivity and specificity based on CAP proficiency testing
Assay limitations: Help
This assay will not consistently detect germline mosaicism below 50% or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. The assay does not detect repeat expansions. Possible intergenic variant interactions are not commented on. False positive or … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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