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NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular … see more NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded)  see less
Clinical Genetic Test
Help
offered by
Amsterdam UMC Genome Diagnostics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000529416.2
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2021-01-10
View version history
Last annual review date for the lab: 2021-01-11 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (15): Help
Ehlers-Danlos syndrome; Bone fragility with contractures, arterial rupture, and deafness; Brittle cornea syndrome 1; ...
Genes (22): Help
ADAMTS2 (5q35.3), B3GALT6 (1p36.33), B3GAT3 (11q12.3), B4GALT7 (5q35.3), CHST14 (15q15.1), ...
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: XHMM; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Amsterdam UMC Genome Diagnostics
View lab's website
View lab's test page
Test short name: Help
EDS 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:
Test Order Code
Conditions Help
Total conditions: 15
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 22
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
Bi-directional Sanger Sequence Analysis
* 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:
Clinical validity, Clinical utility, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.