GROWTH HORMONE DEFICIENCY (PITUITARY DWARFISM)
Clinical Genetic Test
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GTR Test Accession: Help GTR000556216.3
INHERITED DISEASEENDOCRINOLOGYNERVOUS SYSTEM ... View more
Last updated in GTR: 2019-10-04
Last annual review date for the lab: 2024-09-06 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic
Ateleiotic dwarfism; Autosomal dominant isolated somatotropin deficiency; Idiopathic growth hormone deficiency more...
Genes (5): Help
GH1 (17q23.3); GH2 (17q23.3); GHRHR (7p14.3); GHSR (3q26.31); RNPC3 (1p21.1)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Laboratorio de Genetica Clinica SL
View lab's website
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: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity for this assay is estimated to be >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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