CDKL5 Gene Sequencing - Clinical Genetic Test - GTR

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CDKL5 Gene Sequencing

Clinical Genetic Test

offered by

Michigan Medical Genetics Laboratories

View lab's test page

GTR Test Accession: GTR000509356.2

NERVOUS SYSTEMINHERITED DISEASESYNDROMIC DISEASE ... View more

Last updated in GTR: 2022-06-16

Last annual review date for the lab: 2023-06-16

At a Glance

Test purpose:

Diagnosis; Mutation Confirmation; Risk Assessment; ...

Conditions (5):

Angelman syndrome-like; Angelman syndrome; Autism spectrum disorder; ...

Genes (1):

CDKL5 (Xp22.13)

Methods (1):

Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)

Target population:

Patients with a diagnosis of early infantile epileptic encephalopathy, 2, …

Clinical validity:

Not provided

Clinical utility:

Establish or confirm diagnosis

Ordering Information

Offered by:

Michigan Medical Genetics Laboratories
View lab's website
View lab's test page

Test short name:

CDKL5

Specimen Source:

Peripheral (whole) blood
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Physician

Test Order Code:

CDKL5
View other test codes

Contact Policy:

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:

Provide appropriate sample, relevant clinical information and a completed requisition form.
Order URL

Test service:

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Custom Sequence Analysis

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Based on applicable state law

Test strategy:

https://www.pathology.med.umich.edu/handbook/#/details/4939

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Lab contact for this test

Conditions

Total conditions: 5

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument

Sequence analysis of the entire coding region

Next-Generation (NGS)/Massively parallel sequencing (MPS)

Illumina NextSeq 550

Clinical Information

Test purpose:

Diagnosis; Mutation Confirmation; Risk Assessment; Screening

Clinical utility:

Establish or confirm diagnosis

View citations (1)

http://omim.org/entry/300203?search=CDKL5&highlight=cdkl5

Target population:

Patients with a diagnosis of early infantile epileptic encephalopathy, 2, Angelman Like Syndrome or Autism Spectrum Disorder.

Variant Interpretation:

What is the protocol for interpreting a variation as a VUS?
Follow ACMG guidelines, suggest family study

Are family members with defined clinical status recruited to assess significance of VUS without charge?
No.

Will the lab re-contact the ordering physician if variant interpretation changes?
Yes. by Phone

Recommended fields not provided:

Clinical validity, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report

Technical Information

Test Procedure:

Using new sample

Test Confirmation:

Using new sample

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Analytical Sensitivity 99-100% Accuracy 100% Precision 100%

Assay limitations:

Does not detect large deletions in the CDKL5 gene or deep intronic mutations.

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Intra-Laboratory

VUS:

Software used to interpret novel variations
SIFT, PolyPhen2, RESCUE-ESE Web Server, Berkeley Drosophila Genome Project

Laboratory's policy on reporting novel variations
Contact ordering physician by phone and by routine report; recommend clinical genetic follow up and/or genetic counseling and parental testing

Recommended fields not provided:

Citations to support 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:

Category: FDA exercises enforcement discretion

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Molecular resources:

View CDKL5 variations in ClinVar

RefSeqGene

Consumer resources:

MedlinePlus

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.