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CNV Analysis via Gene Centric aCGH Test
Test Code10345
CPT Codes
81479<br /> Limited Access Code
Preferred Specimen
5 mL whole blood collected in EDTA (lavender-top) tube, or ACD (yellow-top) tube
Minimum Volume
3 mL whole blood • 5 ug purified DNA • 15 mg fresh tissue/POC • 10 mL or 5 mg direct amniotic fluid or cvs
Other Acceptable Specimens
10 ug of purified DNA at a concentration of at least 100 ng/mcg • Two T25 flasks of confluent culture cells • 20 mg or 2 mm x 2 mm x 2 mm Fresh Tissue/Products of Conception • Saliva in Oragene ™ or GeneFIX™ saliva collection kit • OCD-100 buccal swab • Dried Blood Spots (DBS): 5 or more completely filled spots • 20 mL Direct Amniotic Fluid or Chorionic Villus Sampling (CVS) in sterile media or saline
Instructions
Cell Culture: At least two, T25 flasks of confluent cells. Send specimens overnight in an insulated, shatterproof container.
Fresh Tissue/Products of Conception (POC):
20 mg (15 mg min) or 2 mm x 2 mm x 2 mm tissue.
- Direct Tissue: Tissue should be sent frozen.
- Tissue for cell culture: Send in sterile media or saline (not frozen).
Saliva: Oragene ™ or GeneFIX™ saliva collection kit used according to manufacturer instructions. Ship at room temperature.
Buccal: OCD-100 buccal swab preferred used according to manufacturer instructions. Ship at room temperature.
Dried Blood Spots (DBS): 5 or more completely filled spots, each 10 mm in diameter. Ship at room temperature after drying.
Direct Amniotic Fluid or Chorionic Villus Sampling (CVS): 20 mL (10 mL min) of direct amniotic fluid or 10 mg (5 mg min) cleaned CVS tissue in sterile media or saline. A back-up culture is required for ongoing pregnancies. Ship specimens overnight in an insulated, shatterproof container.
**PRENATAL TESTING**
Specimen Requirements: 10 to 20 mL of Amniotic fluid, 10 to 20 mg chorionic villus sample (CVS), 3 mL of cord blood, Two T25 flasks of cultured amniocytes, Two T25 flasks of cultured chorionic villi, 2 ug DNA at a concentration of at least 100 ug/mL.
Please submit maternal blood 3-5 mL whole blood EDTA (purple top tube) or ACD (yellow top tube) for maternal cell contamination (MCC) studies.
Fresh Tissue/Products of Conception (POC):
20 mg (15 mg min) or 2 mm x 2 mm x 2 mm tissue.
- Direct Tissue: Tissue should be sent frozen.
- Tissue for cell culture: Send in sterile media or saline (not frozen).
Saliva: Oragene ™ or GeneFIX™ saliva collection kit used according to manufacturer instructions. Ship at room temperature.
Buccal: OCD-100 buccal swab preferred used according to manufacturer instructions. Ship at room temperature.
Dried Blood Spots (DBS): 5 or more completely filled spots, each 10 mm in diameter. Ship at room temperature after drying.
Direct Amniotic Fluid or Chorionic Villus Sampling (CVS): 20 mL (10 mL min) of direct amniotic fluid or 10 mg (5 mg min) cleaned CVS tissue in sterile media or saline. A back-up culture is required for ongoing pregnancies. Ship specimens overnight in an insulated, shatterproof container.
**PRENATAL TESTING**
Specimen Requirements: 10 to 20 mL of Amniotic fluid, 10 to 20 mg chorionic villus sample (CVS), 3 mL of cord blood, Two T25 flasks of cultured amniocytes, Two T25 flasks of cultured chorionic villi, 2 ug DNA at a concentration of at least 100 ug/mL.
Please submit maternal blood 3-5 mL whole blood EDTA (purple top tube) or ACD (yellow top tube) for maternal cell contamination (MCC) studies.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 48 hours
Refrigerated: 7 days
Refrigerated: 7 days
Methodology
Hybridization
Setup Schedule
Set up: Varies; Report available: 20 days
Reference Range
See Laboratory Report
Clinical Significance
Candidates for this test are:
- Patients with genetic disorders mainly caused by CNVs.
- Patients with autosomal dominant disorders with no pathogenic variant identified by DNA sequencing.
- Patients with autosomal recessive disorders with one or no pathogenic variants identified by DNA sequencing.
- Patients with autosomal recessive disorders who have had one or more amplicons within the gene fail to PCR amplify.
- Male patients with X-linked disorders with no pathogenic variant identified by DNA sequencing or PCR fails.
- Female patients with X-linked disorders with one or no pathogenic variants have been identified by DNA sequencing.
- Patients with gross genomic imbalances in a region harboring one or more genes targeted on PreventionGenetics' HDGC aCGH, to confirm involvement of such gene(s).
- Patients with genetic disorders mainly caused by CNVs.
- Patients with autosomal dominant disorders with no pathogenic variant identified by DNA sequencing.
- Patients with autosomal recessive disorders with one or no pathogenic variants identified by DNA sequencing.
- Patients with autosomal recessive disorders who have had one or more amplicons within the gene fail to PCR amplify.
- Male patients with X-linked disorders with no pathogenic variant identified by DNA sequencing or PCR fails.
- Female patients with X-linked disorders with one or no pathogenic variants have been identified by DNA sequencing.
- Patients with gross genomic imbalances in a region harboring one or more genes targeted on PreventionGenetics' HDGC aCGH, to confirm involvement of such gene(s).
