Custom Sequencing

Collection Requirements

Source: blood
Container: EDTA lavender
Volume:

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

Contact Genetics for transport medium

STAT: 7 days Routine: 14 days

STAT Routine

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

Adele Hall

Molecular Genetics

Sanger Sequencing of targeted regions to detect variants of interest (point mutations, small insertions/deletions)

See interpretive report

Gene dependent