Specimen Requirements

Specimen Requirements

Acceptable Specimen Types

Test Method Whole Blood DNA Saliva Cell Cultures Fresh, Frozen Tissue Buccal Swabs Direct Amniotic Fluid/CVS Other
Sanger Sequencing++++++++++++cSemend
NextGen Sequencing++++++++++++c-
Gene-centric aCGH++++++++++c-
MLPA++++aTest #1941 only++a----
PGxome++++b++++b++---
Chromosomal Microarray (CMA)++++b+++b+++--

++ Preferred; + Accepted; - Not Accepted

**Exceptions:

  1. Cell cultures and DNA extracted from CVS and amniocytes not accepted for MLPA; DNA extracted from saliva (except #1941) also not accepted.
  2. Cell cultures and DNA extracted from CVS and amniocytes acceptable for PGxome and CMA for non-ongoing pregnancies only.
  3. Direct prenatal specimen types most appropriate for targeted prenatal familial variant testing (Test Code #990), and strongly discouraged for full gene and panel tests. Back-up culture highly recommended.
  4. Semen: Collect 1-2 vials and flash freeze. Vials to be sent frozen (preferably on dry ice). Please contact us for details.

Specimen Requirement Details

Please contact us with additional specimen requirement questions.

Whole Blood: Collect 3 ml - 5 ml of whole blood in EDTA (purple top tube) or ACD (yellow top tube), minimum 1 ml for small infants.

DNA: Send in screw cap tube at least 5 µg -10 µg of purified DNA at a concentration of at least 20 µg/ml for NGS and Sanger tests and at least 5 µg of purified DNA at a concentration of at least 100 µg/ml for gene-centric aCGH, MLPA, and CMA tests, minimum 2 µg for limited specimens. Indicate concentration on tube label. For requests requiring more than one test, send an additional 5 µg DNA per test ordered when possible.

Saliva: OrageneTM Saliva Collection kit used according to manufacturer instructions.

Fetal (CVS/AMNIOCYTES) and other cell cultures: Culture and send at least two, T25 flasks of confluent cells. For sequencing or gene-centric aCGH panels, two flasks are often sufficient; however, some panels may require additional flasks (dependent on size of genes, amount of Sanger sequencing required, etc.). Multiple test requests may also require additional flasks. Please contact us for details. We strongly recommend maintaining a local back-up culture;
PreventionGenetics does not culture cells.

Fresh, Frozen Tissue: Collect 2mm x 2mm x 2mm tissue and flash freeze. Tissue to be sent frozen (preferably dry ice). Please contact us for additional details.

Buccal Swabs: Buccal swabs are most appropriate for targeted, known variant testing. Collect 3-6 buccal swabs for targeted, known variant testing and 10-20 buccal swabs for sequencing and gene-centric aCGH of full gene(s).

Direct Amniotic Fluid/Chorionic Villi: Collect 10 ml -15 ml of direct amniotic fluid or 5 mg -10 mg cleaned CVS tissue (~15-20 cleaned villi). We strongly recommend maintaining a local back-up culture.