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Cornelia de Lange Syndrome NGS Panel
Clinical Genetic Test
Help
offered by
Greenwood Genetic Center Diagnostic Laboratories
View lab's test page
LinkOut
GTR Test Accession: Help GTR000558971.10
CAP
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... View more
Last updated in GTR: 2022-12-06
View version history
Last annual review date for the lab: 2024-04-17 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (5): Help
Cornelia de Lange syndrome 1; Congenital muscular hypertrophy-cerebral syndrome; Cornelia de Lange syndrome 3 more...
Genes (5): Help
HDAC8 (Xq13.1); NIPBL (5p13.2); RAD21 (8q24.11); SMC1A (Xp11.22); SMC3 (10q25.2)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Greenwood Genetic Center Diagnostic Laboratories
View lab's website
View lab's test page
Specimen Source: Help
  • Cord blood
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Saliva
  • Skin
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Lab contact: Help
Robin Fletcher, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
rfletcher@ggc.org
864-388-1055
Kellie Walden, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
kwalden@ggc.org
334-246-3647
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
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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:
Test Order Code, Test strategy
Conditions Help
Total conditions: 5
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
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:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, 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
Sequence method detects 98% of sequence variants
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
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.