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Ashkenazi Jewish Diseases, 16 Genes
0051415
Ordering Recommendation

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

Mnemonic
AJP
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Tue, Fri
Reported
5-10 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month 
Reference Interval
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, includingABCC8-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 C, 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 percent 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
1/7,8001/521/1,700
Bloom syndrome (BLM)p.Y736Lfs (c.2207_2212delinsTAGATTC)1/40,0001/1001/3,300
Canavan disease (ASPA)c.433-2A>G
p.Y231X (c.693C>A)
p.E285A (c.854A>C)
p.A305E (c.914C>A)
1/10,0001/501/4,900
Familial dysautonomia (IKBKAP)p.R696P (c.2087G>C)
c.2204+6T>C
1/3,6001/321/3,100
Fanconi anemia group C (FANCC)p.D23Ifs (c.67delG) c.456+4A>T1/32,0001/891/8,800
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)
1/9001/151/141
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, 0001/711/7,000
Joubert syndrome type 2 (TMEM216)p.R73L (c.218G>T)1/34,0001/921/9,100
Lipoamide dehydrogenase deficiency (DLD)p.Y35X (c.104dupA)
p.G229C (c.685G>T)
1/35,0001/941/9,300
Maple syrup urine disease type 1B (BCKDHB)p.R183P (c.548G>C)
p.G278S (c.832G>A)
p.E372X (c.1114G>T)
1/50,0001/1131/11,200
Mucolipidosis type IV (MCOLN1)c.406-2A>G
g.511_6493del
1/63,0001/1271/2,500
NEB-related nemaline myopathy (NEB)exon 55 del (p.R2478_D2512del)1/47,0001/1081/10,700
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)
1/32,0001/901/890
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)
1/3,0001/301/480
Usher syndrome type 1F (PCDH15)p.R245X (c.733C>T)1/20,5001/721/190
Usher syndrome type 3
(CLRN1)
p.N48K (c.144T>G)1/82,0001/1431/7,100

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
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.
CPT Code(s)
81200, 81205, 81209, 81242, 81250, 81251, 81255, 81260, 81290, 81330, 81400, 81401, 81479
Components
Component Test Code*Component Chart NameLOINC
0051417Ashkenazi Jewish Diseases, Allele 1
0051418Ashkenazi Jewish Diseases, Allele 2
0051420Ashkenazi Jewish Diseases, Interp51968-6
2001292Ashkenazi Jewish Diseases, Specimen31208-2
* 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
  • 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