NGS panel - Cutis laxa
GTR Test Accession: Help GTR000529430.3
CONNECTIVE TISSUEDYSMORPHOLOGYOPHTHALMOLOGY ... View more
Last updated in GTR: 2021-01-08
Last annual review date for the lab: 2021-01-11 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Cutis laxa; Autosomal recessive cutis laxa type 2B; Cutis laxa, autosomal dominant 1; ...
Genes (8): Help
ALDH18A1 (10q24.1), ATP7A (Xq21.1), EFEMP2 (11q13.1), ELN (7q11.23), FBLN5 (14q32.12), ...
Molecular Genetics - Deletion/duplication analysis: XHMM; ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Amsterdam UMC Genome Diagnostics
View lab's website
View lab's test page
Test short name: Help
Cutis laxa panel
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
Lab contact: Help
Alessandra Maugeri, PhD, Staff
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Using our website
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Sequence Analysis
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Test strategy: Help
Targeted Next-Generation sequencing and CNV analysis
Pre-test genetic counseling required: Help
No
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: 8
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
XHMM
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
According CMGS guidelines

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
greater than 99 percent
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Alamut

Laboratory's policy on reporting novel variations Help
According CMGS guidelines
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.