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Ashkenazi Jewish Diseases, 16 Genes
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Preferred gene panel for carrier screening for individuals of Ashkenazi Jewish descent who are planning a pregnancy or are currently pregnant.
Polymerase Chain Reaction/Fluorescence Monitoring
Tue, Fri
5-10 days
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Refrigerated.
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month
Interpretive Data:
Background Information for Ashkenazi Jewish Diseases, 16 Genes:
Overview: This targeted panel detects 51 variants common in the Ashkenazi Jewish population associated with 16 disorders, including ABCC8-related hyperinsulinism, Bloom syndrome, Canavan disease, familial dysautonomia, Fanconi anemia group C, Gaucher disease, glycogen storage disease 1A, Joubert syndrome type 2, lipoamide dehydrogenase deficiency, maple syrup urine disease type 1B, mucolipidosis type IV, NEB-related nemaline myopathy, Niemann-Pick disease type A, Tay-Sachs disease, Usher syndrome type 1F and type 3.
Inheritance: Autosomal recessive.
Clinical Sensitivity: Among Ashkenazi Jewish individuals:
-99 percent for Canavan disease, lipoamide dehydrogenase deficiency, familial dysautonomia, Fanconi anemia group C, glycogen storage disease type 1A, Joubert syndrome type 2, maple syrup urine disease type 1B, and NEB-related nemaline myopathy
-98 percent for Usher syndrome type 3
-97 percent for ABCC8-related hyperinsulinism and Bloom syndrome
-95 percent for mucolipidosis type IV
-94 percet for Tay-Sachs disease
-90 percent for Gaucher disease and Niemann-Pick disease type A
-62 percent for Usher syndrome type 1F
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring. See table below for specific variants tested.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Variants other than those tested on this panel will not be detected. Diagnostic errors can occur due to rare sequence variations.
| Disease (Gene) |
Variants Tested |
Ashkenazi Disease Incidence |
Ashkenazi Pretest Carrier Risk |
Ashkenazi Post-test Carrier Risk after Negative Result |
|---|---|---|---|---|
| ABCC8-related hyperinsulinism (ABCC8) | p.F1388del (c.4163_4165del) p.V187D (c.560T>A) c.3992-9G>A |
1/7,800 | 1/52 | 1/1,700 |
| Bloom syndrome (BLM) | p.Y736Lfs (c.2207_2212delinsTAGATTC) | 1/40,000 | 1/100 | 1/3,300 |
| Canavan disease (ASPA) | c.433-2A>G p.Y231X (c.693C>A) p.E285A (c.854A>C) p.A305E (c.914C>A) |
1/10,000 | 1/50 | 1/4,900 |
| Familial dysautonomia (IKBKAP) | p.R696P (c.2087G>C) c.2204+6T>C |
1/3,600 | 1/32 | 1/3,100 |
| Fanconi anemia group C (FANCC) | p.D23Ifs (c.67delG) c.456+4A>T | 1/32,000 | 1/89 | 1/8,800 |
| Gaucher disease (GBA) | p.L29Afs (c.84dupG) c.115+1G>A p.N409S (c.1226A>G) c.1263_1317del55 p.V433L (c.1297G>T) p.D448H (c.1342G>C) p.L483P (c.1448T>C) p.R535H (c.1604G>A) |
1/900 | 1/15 | 1/141 |
| Glycogen storage disease type 1A (G6PC) | p.Q27Rfs (c.79delC) p.Y128Tfs (c.379_380dupTA) p.R83H (c.248G>A) p.R83C (c.247C>T) p.G188R (c.562G>C) p.Q242X (c.724C>T) p.Q347X (c.1039C>T) p.G270V (c.809G>T) p.F327del (c.979_981delTTC) |
1/20, 000 | 1/71 | 1/7,000 |
| Joubert syndrome type 2 (TMEM216) | p.R73L (c.218G>T) | 1/34,000 | 1/92 | 1/9,100 |
| Lipoamide dehydrogenase deficiency (DLD) | p.Y35X (c.104dupA) p.G229C (c.685G>T) |
1/35,000 | 1/94 | 1/9,300 |
| Maple syrup urine disease type 1B (BCKDHB) | p.R183P (c.548G>C) p.G278S (c.832G>A) p.E372X (c.1114G>T) |
1/50,000 | 1/113 | 1/11,200 |
| Mucolipidosis type IV (MCOLN1) | c.406-2A>G g.511_6943del |
1/63,000 | 1/127 | 1/2,500 |
| NEB-related nemaline myopathy (NEB) | exon 55 del (p.R2478_D2512del) | 1/47,000 | 1/108 | 1/10,700 |
| Niemann-Pick disease type A (SMPD1) | p.L304P (c.911T>C) p.F333Sfs (c.996delC) p.R498L (c.1493G>T) p.R610del (c.1829_1831delGCC) |
1/32,000 | 1/90 | 1/890 |
| Tay-Sachs disease (HEXA) | 7.6 kb del p.G269S (c.805G>A) c.1073+1G>A p.Y427Ifs (c.1274_1277dup TATC) c.1421+1G>C Pseudodeficiency alleles: p.R247W (c.739C>T) p.R249W (c.745C>T) |
1/3,000 | 1/30 | 1/480 |
| Usher syndrome type 1F (PCDH15) | p.R245X (c.733C>T) | 1/20,500 | 1/72 | 1/190 |
| Usher syndrome type 3 (CLRN1) |
p.N48K (c.144T>G) | 1/82,000 | 1/143 | 1/7,100 |
Laboratory Developed Test (LDT)
Cystic fibrosis (CF) carrier testing is NOT included as part of this panel. Please order Cystic Fibrosis (CFTR) 165 Pathogenic Variants (ARUP test code 2013661) to assess CF carrier status.
Hotline History
81412
| 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 | |
| 3001465 | Ashkenazi Jewish Diseases, Gene 2 | |
| 3001466 | AJP Gene 1, Allele 1 | |
| 3001467 | AJP Gene 1, Allele 2 | |
| 3001468 | AJP Gene 2, Allele 1 | |
| 3001469 | AJP Gene 2, Allele 2 | |
| 3001470 | Ashkenazi Jewish Diseases Carrier Status | |
| 3001754 | Ashkenazi Jewish Diseases, Panel Results |
- Acid sphingomyelinase deficiency
- AJ Panel
- ASPA
- BCKDHB
- BLM
- Bloom Syndrome
- Canavan
- CLRN1
- Dihydrolipoamide dehydrogenase deficiency
- DLD
- Familial Disautonomia
- FANCC
- Fanconi anemia group C
- G6PC
- Gaucher
- 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
- Tay-Sachs
- TMEM216
- Usher syndrome 1F
- Usher syndrome 3
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