MLPA is one of the few techniques with the ability to quickly and accurately identify small deletions and duplications that may be below the resolution of FISH or aCGH. MLPA method allows to conduct a quantitative evaluation of several dozens of different nucleotide sequences of DNA within one test.
This method is used for:
• Microdeletion/microduplication syndromes (SALSA MLPA KIT P245 and P297 MRC Holland) (procedure code: GEN-122)
| SALSA MLPA kit P245 Microdeletion/microduplication syndromes | SALSA MLPA kit P297 Microdeletion/microduplication syndromes: |
| 1p36 2p16 2q23 / MBD5 gene 2q33 / SATB2 gene 3q29 4p16.3 (Wolf-Hirschhorn syndrome) 5p15 (Cri du Chat syndrome) 5q35.3 (Sotos syndrome) 7q11.23 (Williams syndrome) 8q (Langer-Giedion syndrome) 9q22.3 10p15 (DiGeorge syndrome critical region 2) 15q11.2 (Prader-Willi/Angelman syndrome) 15q24 16p13.3 (Rubinstein-Taybi syndrome) 17p (Miller-Dieker syndrome) 17p11.2 (Smith-Magenis syndrome) 17q11.2 (Neurofibromatosistype 1 (NF1)) 17q21 22q11 (DiGeorge syndrome) 22q11 (Distal Deletion syndrome) 22q13 (Phelan-McDermid syndrome) Xq28/ MECP2 gene | 1q21.1 (TAR syndrome) 1q21.1 (other than TAR syndrome) 3q29 7q36.1 12p11.23 15q13 15q24.1 16p11 17q12 18q21.2 20p12.2 |
Tubes with blood should be sent to the Cytogenetic Laboratory of the Medical Genetics Department by expedited post, in ambient temperature, up to 48 hours from material collection.
Material: peripheral blood in EDTA tubes (1 ml blood)
Waiting time for the test result: 4 weeks
Price: 470 PLN
Detailed information available at: +48 22 3277145
The test fee can be paid directly at the Institute’s cash desk or by transfer to the following bank account: ALIOR BANK 81 2490 0005 0000 4600 8807 9430 (procedure code in the transfer title, according to the price list).
Documents:
Instructions
for taking material for testing:
download
PDF
Referral for test and declaration of informed consent: download PDF