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HelpNGS Single Gene, with or without copy number variant (CNV)
Collection Restrictions
Prenatal samples require consent obtained by a Genetic counselor
Collection Requirements
Source: blood
Container: EDTA lavender
Volume:
- Preferred: 3 mL in vacutainer
- Minimum: 1 mL in vacutainer
Source: buccal/saliva
Container: OraCollect Kit
Source: amniotic fluid
Container: minimum 2 sterile centrifuge tubes
Volume: 20 mL amniotic fluid
Source: chorionic villi
Container: sterile cup or tube with sterile
transport medium
Volume: optimal sample is >50 mg of chorionic
villi
Source: tissue
Container: sterile cup with sterile transport
medium
Volume: 20 mg tissue
Source: tissue, fresh frozen
Container: sterile cup
Volume: 20 mg tissue
Special Instructions
Contact Genetics for transport medium
Turn Around Time
STAT: 30 days Routine: 90 days
Availability
STAT Routine
Lab Processing Instructions
Specimen: whole blood
Room temperature or refrigerate
Specimen: buccal/saliva, amniotic fluid, chorionic villi, or tissue in trasnport medium
Room temperature
Specimen: tissue, fresh frozen
Freeze
Performing Laboratory
Adele Hall
Adele Hall Lab Section
Molecular Genetics
Instrumentation/Methodology
Next Generation Sequencing – Gene requested which is related to patient’s phenotype will be analyzed
Additional Information
Determine the genetic cause of the abnormality
Reference Ranges
See interpretive report
CPT
Gene dependent