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Test Code CH-FAMS Cytogenetics Familial Study

Clinical System Name

See Cytogenetics Final Report

Synonyms

CH FAMS
Chromosome Family Study Request
Family Study (Chromosomes)
Limited Karyotype
Limited Study (Chromosomes)
Parental Interphase FISH
Parental Metaphase FISH
qPCR
SNP Array Parental Follow Up Study

Description

This test is appropriate for parental testing 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. Please contact the Cytogenetics Laboratory (987-3961) if you have questions regarding the specific test to be performed.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA AND Dark Green/Sodium Heparin (no serum separator)

Preferred Vol:  3-5 mL per tube

Minimum Vol: TWO tubes: Lavender/EDTA and Dark Green/Sodium Heparin (no gel separator), 3 mL PER TUBE

 

Note:  Keep sample at room temperature; deliver to the lab promptly. Samples received after 3 pm will be set up the following day.

Processing Instructions

Reject due to: Collected in microtainer.

Spin: N

Aliquot: N

Temp: RT

 

Note: Lavender/EDTA tube only for parental SNP array and qPCR is acceptable.

  

Storage location:  Days: Transport specimen, requistion, and labels to 10th floor Cytogenetics (station #280). 

Eves/Nights: Store specimen, copy of requisition, and labels in the Cytogenetics box in CPA.

 

Off-site collection:  Keep sample at room temperature. Transport to Seattle Children's Lab promptly. Samples received after 3 pm will be set up the following day.

Stability

Temperature Time
Room temp 3 days
Refrigerated No
Frozen No

 

Availability

Test STAT Performed TAT
qPCR N weekly 30 days
Limited karyotype N daily 10-14 days
Parental FISH studies N daily 30 days*

* delays could occur due to FISH probe availability or if FISH probes require a custom order

Performing Laboratory

Seattle Children's Hospital

Department

Department: Cytogenetics Laboratory 

Phone number: 206-987-3961

 

Lab Client Services: 206-987-2617, labclientservices@seattlechildrens.org

 

Lab Genetic Counselors: LabGC@seattlechildrens.org

 

 

 

Methodology

Method: Determined by test requested: SNP array, interphase fluorescence in situ hybridization (FISH) or metaphase FISH, limited karyotype, qPCR

CPT Codes

Determined by test requested - contact Lab Client Services for appropriate CPTs.

Special Instructions

Test request form should be completed by the ordering physician to include 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.

Clinical Utility

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.