Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel
Clinical Genetic Test
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GTR Test Accession: Help GTR000522393.2
INHERITED DISEASECONNECTIVE TISSUESYNDROMIC DISEASE ... View more
Last updated in GTR: 2015-08-31
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis
Epidermolysis bullosa simplex due to plakophilin deficiency; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Autosomal hypohidrotic ectodermal dysplasia more...
ANTXR1 (2p13.3); APCDD1 (18p11.22); AXIN2 (17q24.1); BANF1 (11q13.1); BCS1L (2q35) more...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
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Ordering Information
Test Order Code: Help
DRM08
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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: 29
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 55
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
For diagnostic sequencing we require a minimal coverage of 30 high-quality, uniquely mapping non-duplicate reads over at least 97% of the target region. At this level, the lowest expected sensitivity is 99.998%. Pathogenic and unclear variants are resequenced using Sanger sequencing, providing a second, independent, confirmation.
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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