Chromosomal microarray - Clinical Genetic Test - GTR

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Chromosomal microarray

Clinical Genetic Test

offered by

Michigan Medical Genetics Laboratories

View lab's test page

GTR Test Accession: GTR000508888.2

CAP

INHERITED DISEASEDYSMORPHOLOGYNERVOUS SYSTEM ... 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 (18):

Intellectual disability; 22q partial monosomy; Anomaly of sex chromosome; ...

Chromosomal regions/ Mitochondria (1):

Human genome

Methods (1):

Molecular Genetics - Deletion/duplication analysis: Microarray

Target population:

Patients with a diagnosis of Autism Spectrum Disorder, Intellectual disability, …

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:

SNPM1

Manufacturer's name:

Illumina CytoSNP 850K

Specimen Source:

Peripheral (whole) blood
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Physician

Test Order Code:

SNPM1
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
OrderCode: SNPM1
Confirmation of research findings
OrderCode: SNPM1

Test development:

Manufactured (research use only; not FDA-reviewed)

Informed consent required:

Based on applicable state law

Test strategy:

https://www.pathology.med.umich.edu/handbook/#/details/4760

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: 18

Condition/Phenotype	Identifier

Test Targets

Chromosomal regions/Mitochondria

Total chromosomal regions/mitochondria: 1

Chromosomal region/Mitochondrion	Associated condition

Methodology

Total methods: 1

Method Category

Test method

Instrument

Deletion/duplication analysis

Microarray

Illumina HiScan™SQ system
Tecan Genesis Robotic Workstation 150

Clinical Information

Test purpose:

Diagnosis; Mutation Confirmation; Risk Assessment; Screening

Clinical utility:

Establish or confirm diagnosis

View citations (1)

http://omim.org/entry/607872?search=deletion%20syndrome&highlight=syndromic%20syndrome%20deletion

Target population:

Patients with a diagnosis of Autism Spectrum Disorder, Intellectual disability, multiple congenital anomalies, Genomic disorders or Copy Number variations.

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 Platform:

Illumina Infinium HD HumanCytoSNP-850K

Test Confirmation:

Using new sample

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Analytical Sensitivity 75% Accuracy 99% Precision 99%

Assay limitations:

May not detect single exon deletions or duplications or CNVs that are smaller than 50-100 KB. This assay does not detect balanced genomic rearrangements.

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Formal PT program

PT Provider:
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

VUS:

Software used to interpret novel variations
ISCA, DGV, HGMD

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, 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:

Consumer resources:

NCATS Office of Rare Diseases Research (GARD)

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.