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Ashkenazi Jewish Diseases, 16 Genes
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
Specimen Required
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).
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)
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
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
Methodology
Polymerase Chain Reaction (PCR)/Fluorescence Monitoring
Performed
Varies
Reported
5-10 days
Reference Interval
Interpretive Data
Refer to report
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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
CPT Codes
81401, 81209, 81200, 81260, 81242, 81251, 81250, 81479, 81205, 81290, 81400, 81330, 81255
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 |
Aliases
- Acid sphingomyelinase deficiency
- AJ Panel
- ASPA
- BCKDHB
- BLM
- CLRN1
- dihydrolipoamide dehydrogenase deficiency
- DLD
- ELP1
- FANCC
- Fanconi anemia group C
- G6PC
- GBA
- Gierke disease
- glycogen storage disease type 1A
- HEXA
- hexosaminidase A deficiency
- hyperinsulinemia ABCC8-related hyperinsulinism
- IKBKAP
- 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
