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FSHMD1A Prenatal Detect of Abn Alleles with Interpretation
Test Code11163
CPT Codes
81404<br>Restricted Client Code
Preferred Specimen
Parental: 6 mL whole blood collected into two EDTA (pink-top) tubes, and
1 mL amniotic fluid collected in six confluent T25 flasks (see instructions), or
10 mg chorionic villus in six confluent T25 flasks (see instructions)
1 mL amniotic fluid collected in six confluent T25 flasks (see instructions), or
10 mg chorionic villus in six confluent T25 flasks (see instructions)
Transport Container
Sample Processing: Pink top tubes are sent as whole blood, no processing necessary. T25 flasks of cells are completely filled with culture medium, closed with non-vented caps, and sealed by wrapping parafilm around cap and neck of flask. Specimen must be accompanied by the UIDL requisition.
Transport Instructions: Place specimens into Styrofoam container, seal container. DO NOT FREEZE, protect specimen by wrapping each individual tube and T25 flask in bubble-wrap or toweling. Recommend early AM overnight shipping or equivalent if not on courier service. Please ship on Mondays, Tuesdays, or Wednesdays whenever possible. Ship refrigerated.
Specimens are time sensitive. Best practice is to have specimens sent directly to UIDL as specimen begins to degrade immediately after collection. Client will need to use the direct ship process to UIDL.
Specimen Requirements:
Blood: Parental Sample(s) 6 mL whole blood in two (2) pink top EDTA tubes --And --
Amniotic Fluid: 1 mL per week gestational age to set up cell cultures at your institution --or--
Chorionic Villus: 10 mg clean villus to set up cell cultures at your institution
NOTE: We require SIX, confluent T25 flasks of cultured fetal cells for testing. The time necessary for growing the cells will vary. Ship the cells to Iowa once the flasks reach confluence.
Transport Instructions: Place specimens into Styrofoam container, seal container. DO NOT FREEZE, protect specimen by wrapping each individual tube and T25 flask in bubble-wrap or toweling. Recommend early AM overnight shipping or equivalent if not on courier service. Please ship on Mondays, Tuesdays, or Wednesdays whenever possible. Ship refrigerated.
Specimens are time sensitive. Best practice is to have specimens sent directly to UIDL as specimen begins to degrade immediately after collection. Client will need to use the direct ship process to UIDL.
Specimen Requirements:
Blood: Parental Sample(s) 6 mL whole blood in two (2) pink top EDTA tubes --And --
Amniotic Fluid: 1 mL per week gestational age to set up cell cultures at your institution --or--
Chorionic Villus: 10 mg clean villus to set up cell cultures at your institution
NOTE: We require SIX, confluent T25 flasks of cultured fetal cells for testing. The time necessary for growing the cells will vary. Ship the cells to Iowa once the flasks reach confluence.
Transport Temperature
Refrigerated (cold packs)
Specimen Stability
Room temperature: 24 hours
Refrigerated: 5 days
Frozen: Unacceptable
Refrigerated: 5 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Blood older than 5 days will be rejected • Liquid DNA specimens are not acceptable for this assay
Methodology
Optical Mapping
Setup Schedule
Set up: Varies; Report available: 6-8 weeks
Reference Range
See Laboratory Report
