3019937
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  Huntington Disease (HD) CAG Repeat Expansion, Fetal

HD PCR FE

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Huntington Disease Consent Form (Required for all patients)

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Additional Technical Information

Ordering Recommendation

Prenatal diagnostic testing for Huntington disease (HD). A completed Huntington Disease Consent Form, signed by the patient and ordering health care provider, is required. Documentation of a full penetrance HD-causing allele in a biological parent is required. Fetal testing will not be performed without prior approval; please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.

New York DOH Approval Status

This test is not New York state approved. Due to short specimen stability it is recommended that this testing be submitted directly to a New York state-approved laboratory. Do not submit sample to ARUP.

Specimen Required

Patient Preparation
Collect

Amniotic fluid OR cultured amniocytes OR cultured CVS: Two T-25 flasks at 80 percent confluency.
AND maternal whole blood: lavender (K2 or K3EDTA), pink (K2EDTA), yellow (ACD solution A or B).

If the client is unable to culture, order test Cytogenetics Grow and Send (ARUP test code 0040182) in addition to this test and ARUP will culture upon receipt (culturing fees will apply). If you have any questions, contact ARUP's Genetics Processing at 800-522-2787 ext. 3301.

Specimen Preparation

Amniotic fluid: Transport 10 mL amniotic fluid in a sterile container (min: 5 mL) OR cultured amniocytes OR cultured CVS: Fill flasks with culture media. Backup cultures must be retained at the client's institution until testing is complete.
AND maternal whole blood: 2 mL whole blood (min: 1 mL).

Storage/Transport Temperature

Amniotic fluid, cultured amniocytes, or cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells.
Maternal whole blood: Room temperature.

Unacceptable Conditions

Maternal: Frozen specimens in glass collection tubes.

Remarks
Stability

Fetal Specimen: Ambient 48 hours; Refrigerated: unacceptable; Frozen: Unacceptable
Maternal whole blood: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

  Polymerase Chain Reaction (PCR) / Capillary Electrophoresis / Fragment Analysis

Performed

    Varies

Reported

    7-10 days
  If culture is required, an additional 1 to 2 weeks is required for processing time. Prenatal specimens with maternal cell contamination may give false-negative results.

Reference Interval

Interpretive Data

  Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
10/20/2025
X
N/A

CPT Codes

  81271; 81265 Fetal Cell Contamination (FCC)

Are you an ARUP Client? Click here for your pricing.

Components

Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
3019938 Huntington Disease Fetal Specimen 31208-2
3019939 Huntington Disease Fetal Allele 1 49637-2
3019940 Huntington Disease Fetal Allele 2 49638-0
3019941 Huntington Disease Fetal Interpretation 50621-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • HD genetic testing
  • HTT genetic testing
Huntington Disease (HD) CAG Repeat Expansion, Fetal