THE ASHKENAZI JEWISH DISEASES TESTING

In the Ashkenazi Jewish (AJ) population, serious and lethal genetic conditions occur with relatively high frequency. A single test that encompasses the majority of population-specific mutations has not been available till now. For comprehensive carrier screening and molecular diagnostic purposes, Asper has developed a population-specific and inclusive genetic test.  

The test enables to analyze the most common mutations related to Cystic Fibrosis, Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, Familial dysautonomia, Torsion dystonia, Mucolipidosis type IV, Fanconi Anemia, Gaucher disease, Factor XI deficiency, glycogen storage disease type 1a , Maple syrup urine disease, Non-syndromic sensorineural hearing loss, Familial Mediterranean fever, Alpha 1-anti-trypsin Deficiency, Nemaline Myopathy, Usher Syndrome Type 1F, Familial hyperinsulinemia, Familial Hypercholesterolemia, Lipoamide Dehydrogenase Deficiency and Glycogen storage disease type III.

The developed test covers all together 77 mutations in 22 genes: HEX A, BLM, ASPA, SMPD1, IKBKAP, DYT1, MCOLN1, FANCC, F11, G6PC, BCKHDB, GJB2, MEFV, GDE (or Amylo-1,6-glucosidase), GBA, SERPINA1, NEB, DLD, PCDH15, ABCC8, LDLR and CFTR.

The chip has been established in collaboration with Reprogenetics Research, LLC (Chicago, IL, USA) and Stanford University (Stanford, CA, USA).




APEX analysis for sequence variant IKBKAP R696P (735delATCTGAinsTAGATTC). 
Each numbered row represents the analysis of an individual patient sample. The row presents two sets of four-channel fluorescent images representing the bases adenine (A), cytosine (C), guanine (G), and thymine (T), respectively for the sense strand (upper) and antisense strand (lower). The histograms to the right of the fluorescent images are of the fluorescent intensities of the four channels at the mutation analysis site. The letters to the right of the histogram represent the base(s) identified on each strand. 

Row 1 contains the results of normal DNA (WT/WT), in which the sense strand is extended by the WT base G and the antisense strand is extended by the WT base C.  Row 2 contains the results of heterozygous target DNA from a patient (WT/R696P).  In this case, the sense strand is extended by the WT base G and base C complementary for the mutation.  Antisense strand is extended by the WT base C and base G, complementary for the mutation. Row 3 is a negative control.

References

Comprehensive Arrayed Primer Extension Array for the Detection of 59 Sequence Variants in 15 Conditions Prevalent Among the (Ashkenazi) Jewish Population.
Iris Schrijver, Maigi Külm, Phyllis I. Gardner, Eugene P. Pergament, and Morris B. Fiddle
Journal of Molecular Diagnostics, Vol. 9, No. 2, April 2007

Requirements for the DNA samples 

• The DNA quality needs to be ensured (best if isolated with Qiagen kits).

• At least 3 mg of genomic DNA is required for AJ chip analysis

• Preferred concentration range of DNA is 100-250 ng/µl.

• DNA samples should be provided in pure sterile water.

DNA sample submitting

• For speedy and secure delivery, international courier services, for example DHL, UPS and FedEx, are recommended; alternatively, you can send samples by air mail as a small parcel. 

• Since high quality DNA samples are stable, there is no need for shipment on dry or wet ice.
  Care should be taken to avoid drying out; please use either screw cap tubes or wrap the caps of each Eppendorf tube with parafilm. 

• In order to avoid damage to the tubes during shipment, a tube storage box made of plastic or cardboard, and doubling it with a padded envelope, is recommended. Please avoid using round containers, such as 50 ml Corning tubes, for tube protection. 

• Send samples to the following address:
         Asper Biotech
         Oru 3
         Tartu 51014
         Estonia
         Ph: +372 7 441 556 

• Please fill in the DNA sample submission form, which improves and accelerates the handling of DNA samples submitted to Asper and include it in the package as you ship samples. Download the form in Microsoft Word or Adobe Acrobat (pdf) format. 

• Notify us by email (info@asperbio.com, or the respective project manager), including the number of samples, which test is to be performed, and shipment tracking data).

• Enclose in the package the list of samples, which test is to be performed and DNA quality data. 

• Please make sure that the declared value for the package in the shipment documents does not exceed 10 EUR (USD).

Additional services

Additional verification by DNA Sequencing
To confirm the results with secondary method, Asper provides verification of the APEX findings by dideoxy sequencing. Sequencing will be performed under strict quality control regulations by professionally trained personnel on Applied Biosystems 3130 Genetic Analyzer.
Hard copies of the reports on official blank
Asper can provide the formatted results on company’s official letter blank upon request. The hard copy will be signed and sealed by head of the lab and sent out by registered mail. 
Storage of DNA samples at Asper's DNA bank
Asper always performs the screening with as limited amount of DNA as possible. If there will be enough remained DNA; it can be storaged in Asper’s DNA bank. The DNA can be used for further analysis by other tests or just for re-screening. The amount of remained DNA will be measured and report will be sent to partner. The data of DNA samples will be recorded in our laboratory information system and stored under strict quality controlled manner. 
Returning of DNA samples
The remained DNA can be also sent back to partners either by regular mail or by courier.  

Turnaround Time

Standard delivery – The results will be delivered approximately in 3 – 6 weeks after the arrival of  samples.
Express delivery – The results will be delivered in 3 – 5  working days from the arrival of samples. Please note that the cost of the express delivery differs from the standard delivery. 

For further information

Payment details
Please contact: info@asperbio.com 
Ashkenazi Jewish diseases testing (pdf, 102 kb)