Cutis Laxa Panel
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000569556.1
INHERITED DISEASEDYSMORPHOLOGYOPHTHALMOLOGY ... View more
Last updated in GTR: 2019-11-15
Last annual review date for the lab: 2023-10-13 LinkOut
At a Glance
Diagnosis
ALDH18A1-related de Barsy syndrome; Autosomal recessive complex spastic paraplegia type 9B; Autosomal recessive cutis laxa type 2B; ...
Genes (8): Help
ALDH18A1 (10q24.1), ATP6V0A2 (12q24.31), EFEMP2 (11q13.1), ELN (7q11.23), FBLN5 (14q32.12), ...
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
CNH Molecular Diagnostics Laboratory
View lab's website
Test Order Code: Help
MO0050
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: 15
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 8
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 analytical sensitivity of NGS sequencing is estimated to be > 99% at detecting single nucleotide events. It will not reliably detect deletions greater than 20 base pairs, insertions or rearrangements greater than 10 base pairs, or low-level mosaicism.
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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