Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA), Common Mutation Panel
0051415
Ordering Recommendation
Carrier screening for genetic disorders common in Ashkenazi Jewish individuals.
Mnemonic
AJP
Methodology
Polymerase Chain Reaction/ASPE Bead Array
Performed
Tue, Thu
Reported
7-10 days  
New York DOH Approval Status
This test is New York DOH approved.
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
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
   
Interpretive Data
Background Information for Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA), Common Mutation Panel:
Inheritance:
Autosomal recessive.
Clinical Sensitivity:
99 percent for Canavan, Familial Dysautonomia and Fanconi Anemia Group C; 95 percent for Bloom, Mucolipidosis IV and Niemann-Pick type A; 94 percent for Tay-Sachs, and 90 percent for Gaucher.
Methodology:
Multiplex polymerase chain reaction and Detection Primer Extension.
Analytical Sensitivity and Specificity:
99 percent.
Limitations
: Mutations, other than those tested on this panel, will not be detected. Diagnostic errors can occur due to rare sequence variations.





See Compliance Statement C: www.aruplab.com/CS
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.
 
Disease (Symbol) Mutations Tested Ashkenazi
Disease Incidence
Ashkenazi
Carrier Rate
Askenazi Carrier  Rate
after Negative Test
Bloom Syndrome (BLM) p.Y736Lfs (c.2207_2212delinsTAGATTC) 1/40,000 1/100 1/1,980
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_1319del55
p.V433L (c.1297G>T)
p.D448H (c.1342G>C)
p.L483P (c.1448T>C)
p.R535H (c.1604G>A)
1/900 1/15 1/140
Mucolipidosis IV (MCOLN1) c.406-​2A>G
g.511_6493del
1/63,000 1/127 1/2,500
Niemann-​Pick Type-​A Disease (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 1/1,780
Tay-​Sachs (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
Note
Cystic fibrosis (CF) carrier testing is NOT included as part of this panel.  Please order Cystic Fibrosis (CFTR) 32 Mutations (2001933) to assess CF carrier status.
CPT Code(s)
81209, 81200 , 81260, 81242, 81251, 81290, 81330, 81255
Components
Component Test Code*Component Chart Name
0051417Ashkenazi Jewish Panel, Gene 1
0051418Ashkenazi Jewish Panel, Gene 2
0051420Ashkenazi Jewish Panel, Interpretation
2001292Ashkenazi Jewish Panel, Specimen
* 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
  • AJ Panel
  • Bloom Syndrome
  • Canavan
  • Familial Disautonomia
  • Gaucher
  • Mucolipidosis
  • Neiman Pick
  • Tay-Sachs