Ashkenazi Jewish Diseases, 16 Genes

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Additional Technical Information
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.
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

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

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

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.

Hotline History

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Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
12/12/2019
X
08/19/2019
X
N/A
CPT Codes

81412

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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
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
* 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
Ashkenazi Jewish Diseases, 16 Genes