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Cornelia de Lange Syndrome NGS panel
Clinical Genetic Test
Help
offered by
Department of Clinical Genetics
GTR Test Accession: Help GTR000529344.1
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2016-02-03
View version history
Last annual review date for the lab: 2022-01-21 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (4): Help
Cornelia de Lange syndrome 1; Cornelia de Lange syndrome 3; Cornelia de Lange syndrome 4; ...
Genes (4): Help
HDAC8 (Xq13.1), NIPBL (5p13.2), RAD21 (8q24.11), SMC3 (10q25.2)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Department of Clinical Genetics
View lab's website
Test short name: Help
CdLS NGS panel
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Karen Gronskov, PhD, Staff
kennedy-medgenlab.rigshospitalet@regionh.dk
+45 43260100
Zeynep Tümer, PhD, MD, Laboratory Contact
kennedy-medgenlab.rigshospitalet@regionh.dk
4543260155
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
A completed referral note, or a letter stating name, dob, referral reason and the test that are requested. Also an address where to send the report and the invoice.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Test additional service: Help
Custom mutation-specific/Carrier testing
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:
Test Order Code, Test strategy
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 4
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3130XL
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina MiSeq
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Cannot be classified as either pathogenic, likely pathogenic, benign or likely benign.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
None/not applicable
Test Confirmation: Help
Variations that are classified as pathogenic, likely pathogenic and variants of unknown clinical significance are verified by Sanger sequencing.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
In house validation of the method has shown a sensitivity of 100 % (95 % C.I.: 95 - 100 %) for regions with sequencing depth of >X100.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Variants are analysed using SIFT, polyphen2, Align GVGD and MutationTaster for predictions. If possible we perform segregation analysis.

Laboratory's policy on reporting novel variations Help
The person who ordered the test will receive a written report by ordinary mail.
Recommended fields not provided:
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.