Ordering Recommendation

Preferred gene panel for carrier screening for individuals of Ashkenazi Jewish descent who are planning a pregnancy or are currently pregnant. Consultation with an ARUP genetic counselor is advised prior to submission of fetal specimens for diagnostic testing; please call 800-242-2787 ext. 2141.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation

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.
WITH maternal cell contamination specimen: Whole blood: Lavender (EDTA), pink (K 2 EDTA), or yellow (ACD solution A or B).

Specimen Preparation

Whole blood: Transport 3 mL whole blood. (Min: 1 mL)
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.
Maternal cell contamination specimen: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Whole blood or maternal cell contamination specimen: Refrigerated.
Cultured amniocytes OR cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells

Unacceptable Conditions

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


Whole blood or maternal cell contamination specimen: Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Fetal specimens : Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable


Polymerase Chain Reaction (PCR)/Fluorescence Monitoring




5-10 days

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)


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


CPT Codes

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


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.


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