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Genetics Lab

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Cytogenetics Familial Study

Chromosomes are the packages within cells that contain a person’s genetic information (called “genes” or “DNA”). This genetic information tells a person’s body how to develop and function properly. Gains (duplications) or losses (deletions) result in extra or missing copies of genetic material. These types of changes in a person’s chromosomes may be associated with known genetic conditions or may cause problems with health and development, such as birth defects or cognitive impairment.

This test is appropriate for testing of parents and siblings of a child with an uncertain or abnormal result by traditional cytogenetic testing (karyotype, FISH) or chromosomal microarray (SNP array, array CGH). Based on the results of the child’s testing, one of the following cytogenetic follow-up tests can be performed: SNP array, interphase or metaphase FISH, qPCR, or limited karyotype. The appropriate follow-up test is typically indicated on the child’s test report.

Test Name: Cytogenetics Familial Study
Test Code:
CH-FAM
Test Description:
SNP array, interphase fluorescence in situ hybridization (FISH) or metaphase FISH, limited karyotype, qPCR, as appropriate.
Synonyms:
Array Parental Follow Up Study; Chromosome Family Study; Parental Array Follow Up Study; SNP Parental Follow Up Study
Indication:
This test is appropriate for parental and limited family testing of a child with an uncertain or abnormal result by traditional cytogenetic testing (karyotype, FISH) or chromosomal microarray (SNP array, array CGH).
Related Tests: Peripheral Blood Karyotype  

Cytogenetics SNP Array  
Diagnostic evaluation for gain or loss of genetic material caused by microscopic and submicroscopic deletions and duplications.

Clinical Links:
Availability:
Drawn daily
Turnaround Time:
3-6 weeks
Methodology:
SNP array, interphase fluorescence in situ hybridization (FISH) or metaphase FISH, limited karyotype, qPCR, as appropriate
Reference Range:
Interpretive report provided
Requisition:
Consent Form:
Sample Requirements: Type
Whole Blood:
Adults: 3-5ml each
Infants: 1-2ml each
EDTA (purple) tube PLUS heparin (green) tube.

Processing
Keep at room temperature

Shipping
Ship overnight at room temperature
Samples Received:
Mon - Fri 8:00am - 5:00pm PST
Special Considerations:
Providers are required to provide the proband's name and designate the familial relationship to the proband. Please provide a copy of the family history (pedigree) if available (Cytogenetics Laboratory Fax # 206-987-3840). Follow-up test options (recommendations are listed in the proband's report) are SNP array, FISH, limited karyotype, qPCR, or as determined by the Cytogenetics Laboratory.
Cost:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions.
CPT Code:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions.