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Comprehensive Symptom Driven Panel

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 transport medium
Room temperature

 

Specimen: tissue, fresh frozen
Freeze

Performing Laboratory

Adele Hall

Adele Hall Lab Section

Molecular Genetics

Instrumentation/Methodology

Next Generation Sequencing – Genes related to patient’s phenotype will be analyzed

Additional Information

Determine the underlying genetic cause of various abnormalities

Reference Ranges

See interpretive report

CPT

81443