0051415
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Ashkenazi Jewish Diseases, 16 Genes

AJP
Example Reports
Negative
Positive

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Informed Consent for Genetic Testing (Required for NY patients)

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Additional Technical Information

Ordering Recommendation

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Whole blood: Lavender (EDTA), pink (K 2 EDTA), or yellow (ACD solution A or B).
Fetal specimens: Cultured amniocytes: Two T-25 flasks at 80 percent confluency.
OR cultured CVS: Two T-25 flasks at 80 percent confluency.
If the client is unable to culture, order ARUP test Cytogenetics Grow and Send (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.
AND maternal whole blood: lavender (K2 or K3EDTA), pink (K2EDTA), or yellow (ACD solution A or B).

Specimen Preparation

Whole blood: Transport 3 mL whole blood. (Min: 1 mL)
Fetal Specimens: Cultured amniocytes OR cultured CVS: Transport two T-25 flasks at 80 percent confluency filled with culture media. Backup cultures must be retained at the client's institution until testing is complete.
AND maternal whole blood: transport 2 mL whole blood (min: 1 mL).

Storage/Transport Temperature

Whole blood: Refrigerated.
Fetal specimens: Cultured amniocytes OR cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells
AND maternal whole blood: room temperature. Also acceptable: refrigerated.

Unacceptable Conditions

Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.

Remarks
Stability

Whole blood: Ambient: 72 hours; Refrigerated: 1 week; Frozen: unacceptable
Fetal specimens : Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
AND Maternal whole blood: Ambient: 72 hours; Refrigerated: 1 week. Frozen: Unacceptable.

Methodology

Polymerase Chain Reaction (PCR)/Fluorescence Monitoring

Performed

Varies

Reported

5-10 days
If culture is required, an addtional 1 to 2 weeks is required for processing time.

Reference Interval

Interpretive Data

Refer to report

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

Cystic fibrosis (CF) carrier testing is NOT included as part of this panel. Please order Cystic Fibrosis (CFTR) Expanded Variant Panel (ARUP test code 2013661) to assess CF carrier status.

Any submitted fetal specimens will have Maternal Cell Contamination, Fetal Sample, added on by ARUP. Additional charges will apply.

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
01/21/2025
X
N/A

CPT Codes

81401, 81209, 81200, 81260, 81242, 81251, 81250, 81479, 81205, 81290, 81400, 81330, 81255

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Components

Component Test Code* Component Chart Name LOINC
0051420 Ashkenazi Jewish Diseases, Interp 51968-6
2001292 Ashkenazi Jewish Diseases, Specimen 31208-2
3001464 Ashkenazi Jewish Diseases, Gene 1 48018-6
3001465 Ashkenazi Jewish Diseases, Gene 2 48018-6
3001466 AJP Gene 1, Allele 1 48004-6
3001467 AJP Gene 1, Allele 2 48004-6
3001468 AJP Gene 2, Allele 1 48004-6
3001469 AJP Gene 2, Allele 2 48004-6
3001470 Ashkenazi Jewish Diseases Carrier Status 53039-4
3001754 Ashkenazi Jewish Diseases, Panel Results
* 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

  • DLD
  • NEB-related nemaline myopathy
  • Usher syndrome 1F
  • PCDH15
  • Usher syndrome 3
  • CLRN1
  • ELP1
  • Joubert syndrome 2
  • FANCC
  • GBA
  • MCOLN1
  • maple syrup urine disease type IV (MSUD)
  • BCKDHB
  • Acid sphingomyelinase deficiency
  • BLM
  • G6PC
  • HEXA
  • Gierke disease
  • glycogen storage disease type 1A
  • hyperinsulinemia ABCC8-related hyperinsulinism
  • Niemann Pick A
  • mucolipidosis IV
  • hexosaminidase A deficiency
  • ASPA
  • IKBKAP
  • Riley-Day syndrome
  • SMPD1
  • Fanconi anemia group C
  • AJ Panel
  • TMEM216
  • dihydrolipoamide dehydrogenase deficiency
  • lipoamide dehydrogenase deficiency
Ashkenazi Jewish Diseases, 16 Genes