ARUP's Laboratory Test Directory

Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA) : 0051415
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Patient History For Molecular Genetic Testing
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Additional Technical Information


Mnemonic: AJP

Ordering Recommendation: Carrier screening for genetic disorders common in Ashkenazi Jewish individuals.
Methodology: Polymerase Chain Reaction/ASPE Bead Array
Performed: Tue, Thu
Reported: 7-10 days
Specimen Required: 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.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Interpretive Data: Background Information for Ashkenazi Jewish Diseases:
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.
Methods: 28 deleterious mutations, two pseudodeficiency alleles and one polymorphism are detected using polymerase chain reaction followed by multiplexed allele specific primer extension via bead array and fluorescent detection.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Mutations, other than the ones tested on the panel, will not be detected. Rare diagnostic errors may occur due to primer site mutations.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
 
Disease (Symbol) Mutations Tested Ashkenazi
Disease Incidence 		Ashkenazi
Carrier Rate 		Askenazi Carrier
after Negative Test
Bloom (BLM) 2281del6/ins7 1/40,000 1/100 1/1,980
Canavan (ASPA) Y231X(C>A)
E285A
A305E
433(-2)A>G
Polymorphism:
Y231Y(C>T) 		1/10,000 1/50 1/4,900
Familial Dysautonomia (IKBKAP) R696P
IVS20(+6)T>C 		1/3,600 1/32 1/3,100
Fanconi Anemia Group C (FANCC) 322delG
IVS4(+4)A>T 		1/32,000 1/89 1/8,800
Gaucher (GBA) 84G>GG
N370S (mild)
IVS2(+1)G>A
V394L
del55bp
D409H
L444P
R496H 		1/900 1/15 1/140
Mucolipidosis IV (MCOLN1) del6.4kb
IVS3(-2)A>G 		1/63,000 1/127 1/2,500
Niemann-Pick Type-A (SMPD1) L302P
R496L
1bp del fsP330
R608del 		1/32,000 1/90 1/1,780
Tay-Sachs (HEXA) del7.6kb
G269S (mild)
IVS9(+1)G>A
1278insTATC
IVS12(+1)G>C
Pseudodeficiency alleles: R247W
and R249W 		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
Cross References: Bloom Syndrome (Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA)) , Canavan (Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA)) , Familial Disautonomia (Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA)) , Gaucher (Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA)) , Mucolipidosis (Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA)) , Neiman Pick (Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA)) , Tay-Sachs (Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA))