FSHD - Prenatal Detection of Abnormal Alleles with Interpretation
Label Mnemonic: FSHDPRE
Epic code: LAB2456
Downtime form: A-1a Doctor/Provider Orders - Pathology Molecular
Molecular Pathology
6240 RCP
384-9568
Specimen(s):
Fetal Sample (Cultured Cells derived from Amniotic Fluid or Chorionic Villus), Parental Samples (Whole Blood)
Liquid DNA specimens are not acceptable for this assay.
Collection Medium:
and and
Pink top tube 6 mL (K2-EDTA) Pink top tube 6 mL (K2-EDTA) T25 Flasks
Minimum:
Fetal Sample Collection:
  Amniotic Fluid:   1 mL per week gestational age (set up cell
                    cultures)

  Chorionic Villus: 10 mg clean villus (set up cell cultures)

  NOTE: We require SIX, confluent T25 flasks of cultured fetal cells
        for testing. The time necessary for growing the cells will
        vary.

Parental Sample(s) 6 mL whole blood in pink top EDTA tubes
Delivery Instructions:
Deliver blood samples immediately or refrigerate if held overnight. Holding or shipping samples over weekends or holidays is not recommended. DO NOT FREEZE.
Testing Schedule:
Test is performed once a week.
Turn Around Time:
Turnaround time for results is 6 to 8 weeks.
Comments:
Fetal Sample: Amniotic Fluid and Chorionic Villus samples must remain at room temperature at all times and be sent immediately after collection. Place Amniotic Fluid in a sterile centrifuge tube. Place Chorionic Villus samples in transport tube containing enough tissue culture medium to cover the entire sample. Do not allow tissue to become dry.

Fetal samples are to be delivered to the Cytogenetics Laboratory, W101 GH immediately after collection.

Parental samples are delivered to the Molecular Pathology Laboratory, 6240 RCP.
Test Limitations:
Contact the Cytogenetics Laboratory at 319-356-3877 and provide information on when fetal sample is going to be collected.
Methodology:
Optical Mapping
CPT Code:
81404
 
See Additional Information:
Specimens Requiring Immediate Delivery
Facioscapulohumeral Dystrophy (FSHD) Information (FSHD1 and FSHD2)