Cutis laxa gene panel
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000522083.1
INHERITED DISEASEDYSMORPHOLOGYCONNECTIVE TISSUE ... View more
Last updated in GTR: 2015-03-31
Last annual review date for the lab: 2024-01-16 LinkOut
At a Glance
Diagnosis
Cutis laxa with osteodystrophy; ALDH18A1-related de Barsy syndrome; Autosomal recessive cutis laxa type 2B; ...
ALDH18A1 (10q24.1), ATP6V0A2 (12q24.31), ATP7A (Xq21.1), COG7 (16p12.2), EFEMP2 (11q13.1), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
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Ordering Information
Offered by: Help
Connective Tissue Laboratory
View lab's website
Pre-test genetic counseling required: Help
Not provided
Post-test genetic counseling required: Help
Not provided
Recommended fields not provided:
Conditions Help
Total conditions: 14
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 11
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
The sensitivity of the Illumina's Sequencing By Synthesis (SBS) technology (MiSeq Personal Sequencer, Illumina) is >99,9%. Deletions and insertions >15 bp cannot be detected with this technology with the same sensitivity.
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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