DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE)
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000557898.2
INHERITED DISEASEEAR, NOSE, THROATNERVOUS SYSTEM ... View more
Last updated in GTR: 2018-09-20
Last annual review date for the lab: 2024-09-06 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 12; Autosomal recessive nonsyndromic hearing loss 16 more...
CDH23 (10q22.1); GJB2 (13q12.11); GJB6 (13q12.11); MYO15A (17p11.2); MYO7A (11q13.5) more...
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: 13
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 14
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
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
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* 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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