600-01 Cystic Fibrosis-BioChip

Cystic fibrosis (CF) is one of the most common autosomal recessive diseases with multisystem manifestation. This monogenic disease is caused by  mutations in the Cystic fibrosis transmembrane conductance regulator (CFTR) gene which lead to  malfunction of the protein. An abnormal CFTR protein results in defective electrolyte transport and defective chloride ion transport in the apical membrane epithelial cells of the sweat gland,  lung, pancreas, and intestine.

Over 1700 mutations have been identified in the CFTR gene. However, the vast majority of mutations are at frequencies of <0.01% or  associated with mild CF phenotype.  Only few most frequent mutations associated with an aggressive clinical behavior have an actual diagnostic value. The major mutation, ΔF508, accounts for 31% to 72% of CF  patients, depending upon ethnicity/race.  This diagnostic is designed to detect 25 mutations that are found at  high frequency in European populations (including Slavic populations) and  cause severe disease  phenotype .

Indications for analysis:

  • Diagnostic testing (possible or definite diagnosis of CF; infants with meconiumileus; CBAVDin males)
  • Carrier testing  (positive family history; general population of reproductive couples; partners of CBAVD males; gamete donors)

  • Newborn screening

  • Prenatal diagnostic testing

Diagnostic testing, possible diagnosis of CF
● Diagnostic testing, definite diagnosis of CF
● Diagnostic testing, infants with meconium ileus
● Diagnostic testing, CBAVD in males
● Carrier testing, partners of individuals with positive
family history
● Carrier testing, partners of CBAVD males
● Carrier testing, general population of reproductive
couples
● Carrier testing, positive family history
● Carrier testing, gamete donors
● Preimplantation testing
● Prenatal diagnostic testing, positive family history or
for couples having a CF mutation in both partners
● Prenatal diagnostic testing, echogenic bowel in fetus
during second trimester
Diagnostic testing, possible diagnosis of CF
● Diagnostic testing, definite diagnosis of CF
● Diagnostic testing, infants with meconium ileus
● Diagnostic testing, CBAVD in males

Intendeduse:

The diagnostic kit “Cystic Fibrosis-BioChip” provides a DNA test for the simultaneous detection of 25 mutations in the CFTR gene.

 

Principle of the analysis:

Reverse hybridization of fluorescent-labeled probes on the microarray. Algorithm of the analysis includes four stages:

  1. Two-stage PCR amplification of the target DNA fragments;
  2. Hybridization of the obtained products on the microarray;
  3. Microarray fluorescence scanning;
  4. Analysis of the results.

Polymorphisms of the CFTRgene  included in the test:

Dele2-3

R347H

G542X

2184insA

3732delA

G85E

1078delT

G551D

2183AA-G

3821delT

621+1G>T

I507del

R553X

2789+5G>A

3849+10kbC>T

R334W

F508del

1717-1G>A

R1162X

W1282X

R347P

1677delTA

2143delT

S1196X

N1303K

Main advantages of the test:

  • Analysis of the  mutations specific for Slavic populations;
  • DNA for the analysis can be obtained from samples of dry blood spots;
  • Diagnostic sensitivity ≈95%;
  • Analytical sensitivity 1ng/μl;
  • Multiple control of the obtained results;
  • Time and man-hour saving due to the multiplex analysis.

Characteristics of the test:

  • Analyzed bioassay: DNA sample
  • Number of tests: 5
  • Storage conditions: (-18°) – (- 22°)
  • Expiry date: 6 months
 
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