Hutterite Genetic Diseases
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.
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