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

Preferred gene panel for carrier screening for individuals of Ashkenazi Jewish descent who are planning a pregnancy or are currently pregnant. 

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Whole blood: Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).

Specimen Preparation

Whole blood: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Whole blood: 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

Methodology

Polymerase Chain Reaction (PCR)/Fluorescence Monitoring

Performed

Varies

Reported

5-10 days

Reference Interval

Interpretive Data

Refer to report.

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.

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
07/21/2025
X
X
X
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

  • Usher syndrome 3
  • TMEM216
  • dihydrolipoamide dehydrogenase deficiency
  • lipoamide dehydrogenase deficiency
  • DLD
  • NEB-related nemaline myopathy
  • Usher syndrome 1F
  • PCDH15
  • 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
Ashkenazi Jewish Diseases, 16 Genes