Hutterite Genetic Diseases targeted mutation analysis

Genes: ABCC8, ABCG8, ALPL, BBS2, BCHE, CFTR, CPT1A, DNAJC19, DPH1, EMG1, FKRP, GJB2, MUT, MYO7A, NDUFS4, NPHP1, PCDH15, PROP1, SLC5A5, SLC39A8, TECR, TH, TMEM237, TRIM32, TYR, VLDLR, ZMPSTE24

No of
detectable
markers:
31

Lab method: DNA microarray (APEX – Arrayed Primer EXtension)

Price / TAT: 235 EUR / 2-4 weeks

Express service:
280 EUR / 7 working days

Clinical interpretation is not available.


Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1,5 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Estimation of reproductive risks
4. Genetic counseling

Some autosomal recessive disorders are very common in the Hutterite population.

Current test enables the analysis of the most common mutations related to the following conditions: Bardet-Biedl syndrome (BBS); Bowen-Conradi syndrome (BCS); carnitine palmitoyltransf-erase 1 deficiency (CPT1); cerebellar atrophy; short stature (CASS); combined pituitary hormone deficiency (CPHD); congenital hyperinsulinism, cranioectodermal dysplasia (CED); cystic fibrosis (CF); dilated cardiomyopathy with ataxia syndrome (DCMA); dopa-responsive dystonia (DRS); tyrosine hydroxylase deficiency, Segawa syndrome; Disequilibrium syndrome (DES-H), forehead, abnormal heart, renal, rhino (FARR); hyperkeratosis-contracture syndrome; hypophosphatasia; iodide transport defect (ITD); Joubert syndrome (JSRD)/Meckel syndrome (MKS); Leigh disease; Limb girdle muscular dystrophy 2I (LGMD2I); Limb girdle muscular dystrophy 2H/ Sarcotubular myopathy (LGMD2H); methylmalonic aciduria (MMA); nephronophthisis-juvenile (JNPHP); non-syndromic mental retardation; oculocutaneous albinism; sensorineural deafness; sitosterolemia; succinylcholine sensitivity; Usher syndrome Type 1B; Usher syndrome Type 1F (USH1F).

Genetic testing facilitates early diagnosis and improves health care services for individuals and families with genetic disorders.