Ashkenazi Jewish carrier profile complete-14448

Test info

  
Ashkenazi Jewish carrier profile complete
  
14448
  
LAB14448
  
AJC
  
Aspartoacylase
Beta-hexosaminidase
Glucocerebrosidase
Mucolipin
Protogadherin-15
Riley-Day Syndrome
Sister Chromatid Exchange
Sphingomyelinase
von Gie
  
  • Bloom syndrome, DNA
  • Canavan disease, DNA
  • Cystic fibrosis (32 mutations) DNA
  • Dihydrolipoamide dehydrogenase
  • Familial dysautonomia, DNA
  • Familial hyperinsulinism
  • Fanconi anemia C
  • Gaucher disease, DNA
  • Glycogen storage disease carrier testing
  • Hexosaminidase A
  • Joubert syndrome type II
  • Maple syrup urine disease (MSUD)
  • Mucolipidosis type IV mutation detection
  • Nemaline myopathy
  • Niemann-Pick disease
  • Tay-Sachs disease, biochemical, leukocytes (percentage of hexosaminidase A, total activity)
  • Usher syndrome type IF
  • Usher syndrome type III
  • Walker-Warburg syndrome
  

Identification of carriers for eighteen genetic diseases with elevated prevalence among people of Jewish heritage. See Test Includes for individual components of this profile.

Specimen

  
EDTA and ACD whole blood
  

Lavender (EDTA), 10mL and 

Yellow ACD (A or B)

 

  
8 mL EDTA whole blood and 10 mL ACD whole blood
  

Submit specimen in original collection containers

Do not spin

 

  

Lavender (EDTA), 10mL and Yellow ACD (A or B) tubes

  
  

Specimens must arrive in the lab within four days of collection. 

  • Maintain Lavender (EDTA), 10mL tube at room temperature. 
  • Refrigerate Yellow ACD (A or B) tube.

 

Refrigerated (Yellow ACD (A or B) tube only) - 4 days

Ambient (Lavender (EDTA), 10mL tube only)

Frozen - NO

Performance

  
LabCorp Burlington (375920): R-LC
  
13 - 16 days
  

Polymerase chain reaction (PCR), oligonucleotide ligation assay, and primer extension with flow-sorted bead array analysis

Determination of β-hexosaminidase A and B activity using heat inactivation

Clinical and Interpretive info

  

This test is not appropriate for non-Ashkenazi Jewish individuals. This assay may not detect patients or carriers of rare variants of Tay-Sachs disease, such as the B-1 variant or the activator protein deficiency.

Billing

  
This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.
  
81200
81205
81209
81220
81242
81250
81251
81260
81290
81330
81400 x 3
81401
81479
83080

Tracking

  
02/03/2020
  
04/06/2021
  
02/03/2020