CUTIS LAXA (AUTOSOMAL RECESSIVE)
GTR Test Accession: Help GTR000553576.2
INHERITED DISEASECONNECTIVE TISSUEDYSMORPHOLOGY ... View more
Last updated in GTR: 2018-09-20
Last annual review date for the lab: 2023-09-11 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Cutis laxa, autosomal recessive, type 1B; Autosomal recessive cutis laxa type 2B; Cutis laxa, autosomal recessive; ...
Genes (6): Help
ALDH18A1 (10q24.1), ATP6V0A2 (12q24.31), EFEMP2 (11q13.1), FBLN5 (14q32.12), LTBP4 (19q13.2), ...
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Laboratorio de Genetica Clinica SL
View lab's website
View lab's test page
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Test development: Help
Test developed by laboratory (no manufacturer test name)
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: 5
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 6
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
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Recommended fields not provided:
Technical Information
Test Platform:
None/not applicable
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
VUS:
Software used to interpret novel variations Help
Polyphen-2, SIFT, Mutationtaster, MutationAssesor, Human Splicing Finder, AASsites
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.