Prenatal sample: 25 mL amniotic fluid or two (2) T25 flasks grown to confluence Maternal sample: At least 3 mL whole blood in a lavender top (EDTA) tube, saliva in an Oragene saliva kit or 10 mcg of DNA extracted in a CLIA lab may be submitted. A maternal sample is required Paternal or biological family member sample: At least 3 mL whole blood in a lavender top (EDTA) tube, saliva in an Oragene saliva kit or 10 mcg of DNA extracted in a CLIA lab may be submitted. Collection personnel MUST initial specimen container to confirm sample identity. Clinical information is required for all patient testing.
Patient Preparation
PLEASE CONTACT: Genetics and Genomics Diagnostic Laboratory Genetic Counselors at LabGeneticCounselors@cchmc.org if you are considering ordering this test for information on documentation needed to accompany sample.
Specimen Preparation
Do not centrifuge (spin) tube
Storage/Transport Temperature
Store at room temperature / Use overnight shipping (protect from temperature extremes, no ice)
HOURS of OPERATION: 6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)
Unacceptable Conditions
No name on specimen container
Ordering Recommendations
For testing the proband and 2 family members' samples - select the TRIO order For testing the proband and mother - select DUO order For an additional family member added to either DUO or TRIO order - select Add Family Member order
Methodology
Whole Genome Sequencing
Reported
15 Days for Preliminary report of variants in the set of provided genes of differential diagnoses without Sanger confirmation 30 Days for Final report with Sanger confirmation
FOR PRENATAL EXOMESEQ TRIO (Proband and 2 biological family members – most often maternal and paternal samples) : 81415
FOR EACH ADDITIONAL FAMILY MEMBER : 81416
Please call 1-866-450-4198 for pricing or with any billing question.
Collection
Collect
Prenatal sample: 25 mL amniotic fluid or two (2) T25 flasks grown to confluence Maternal sample: At least 3 mL whole blood in a lavender top (EDTA) tube, saliva in an Oragene saliva kit or 10 mcg of DNA extracted in a CLIA lab may be submitted. A maternal sample is required Paternal or biological family member sample: At least 3 mL whole blood in a lavender top (EDTA) tube, saliva in an Oragene saliva kit or 10 mcg of DNA extracted in a CLIA lab may be submitted. Collection personnel MUST initial specimen container to confirm sample identity. Clinical information is required for all patient testing.
Patient Preparation
PLEASE CONTACT: Genetics and Genomics Diagnostic Laboratory Genetic Counselors at LabGeneticCounselors@cchmc.org if you are considering ordering this test for information on documentation needed to accompany sample.
Specimen Preparation
Do not centrifuge (spin) tube
Storage/Transport Temperature
Store at room temperature / Use overnight shipping (protect from temperature extremes, no ice)
HOURS of OPERATION: 6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)
Unacceptable Conditions
No name on specimen container
Ordering
Ordering Recommendations
For testing the proband and 2 family members' samples - select the TRIO order For testing the proband and mother - select DUO order For an additional family member added to either DUO or TRIO order - select Add Family Member order
Methodology
Whole Genome Sequencing
Reported
15 Days for Preliminary report of variants in the set of provided genes of differential diagnoses without Sanger confirmation 30 Days for Final report with Sanger confirmation
