FSHD - Prenatal Detection of Abnormal Alleles with Interpretation

Label Mnemonic:	FSHDPRE
Epic code:	LAB2456
Order form:	Prenatal Facioscapulohumeral Dystrophy (FSHD) Molecular Genetics Requisition Prenatal Facioscapulohumeral Dystrophy (FSHD) Molecular Genetics International Requisition

Specimen(s):

Fetal Sample (Cultured Cells derived from Amniotic Fluid or Chorionic Villus), Parental Samples (Whole Blood) More information
Liquid DNA specimens are not acceptable for this assay.

Collection Medium:

	and		and
Pink top tube 6 mL (K2-EDTA)	and	Pink top tube 6 mL (K2-EDTA)	and	T25 Flasks

Minimum:

Fetal Sample Collection:
  Amniotic Fluid:   1 mL per week gestational age to set up cell
                    cultures at your institution

  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.

Parental Sample(s) 6 mL whole blood in pink top EDTA tubes

Testing Schedule:

Test is performed once a week.

Turn Around Time:

Turnaround time for results is 6 to 8 weeks.

Comments:

1. PLEASE REFER to the Frequently Asked Questions About FSHD, Prenatal Testing for further details.

2. Call UIDL Client Services at 1-866-844-2522 to notify them of the test request. Please provide information on when the fetal sample is going to be collected, genetic counselor name, institution name, telephone number, patient name and the tracking number for the package. Sites will be notified upon receipt of samples if they are found to be suboptimal.

3. Ship parental blood samples and/or cell cultures directly to UIDL on Mondays, Tuesdays, or Wednesdays ONLY.

Methodology:

Optical Mapping

Instructions:

Protect specimen by wrapping each individual tube and T25 flask in bubble-wrap or toweling. Place specimens into Styrofoam container with bubble wrap or packing material so that the contents will not move during shipping. For shipping in colder climates, the addition of temperature control packaging (e.g. Saf-T-Pak Phase Control Material) can stabilize the culture temperature during transit. DO NOT FREEZE. Please ship on Mondays, Tuesdays, or Wednesdays. Recommend early AM overnight shipping or equivalent if not on courier service.

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.

Sample Storage:

Refrigerate the whole blood if it is necessary to be held overnight. Holding samples over weekends or holidays is not acceptable. DO NOT FREEZE.

Transport Instructions:

Ship at refrigerated temperature.

CPT Code:

81404

See Additional Information:
Facioscapulohumeral Dystrophy (FSHD) Information (FSHD1 and FSHD2)