HEREDITARY ATAXIAS

Hereditary ataxias are a group of disorders affecting coordination of the central nervous system. The dominant autosomic hereditary forms coincide in 40.1%  6.4% to mutations due to the expansion of gene triplets: SCA1 (6p22-23), SCA2 (12q24.1), SCA3/MJD (14q32.1), SCA6 (19p13), SCA7 (3p12-13), SCA8 (13q21), SCA12 (5q31), SCA17 (6q27) and DRPLA (12p-ter).

Recessive autosomic hereditary forms usually correspond to Friedreich's ataxia, with the mutation caused by GAA expansion of the first intron of gene X25 (9q13-q21.1).

Study of dominant autosomic ataxia:

Study of a probant or index case (1 sample): 549.68€
Antenatal diagnosis of ataxia in foetal matter and a previous study of the family: 725.76€
Antenatal diagnosis of ataxia in foetal matter with no previous study of the family: 1.821,28€

Study of Friedreich's ataxia:

Study of a probant or index case (1 sample): 549.68€
Study of occasional mutation of the FRDA gene (index case): 640.00€
Study of occasional mutation of the FRDA gene (family cases): 102.00€
Antenatal diagnosis of ataxia in foetal matter and a previous study of the family: 725.76€
Antenatal diagnosis of ataxia in foetal matter with no previous study of the family: 1.821,28€

CYSTIC FIBROSIS OF THE PANCREAS (CF) AND RELATED PHENOTYPES

Mutations of the CFTR gene cause CF and also other diseases known as "related phenotypes", such as agenesis of the deferent ducts, bronchiectasis, chronic pancreatitis, etc.
The study of frequent mutations is specific for patients with CF and the detection rate is between 70-90%, depending on the population. Patients with other diseases require an exhaustive study of the gene, given its great molecular heterogeneity.

Cleavage of 33 frequent mutations and sequence (T)n and microsatellites IVS8CA, IVS17bTA for patients and the general population (detection rate of 76%): 94.71€
Total cleavage of the CFTR gene and microsatellites (T)n, IVS8CA and IVS17bTA (detection rate of 97%): 947.10€
Partial cleavage (13 exons) for bilateral agenesis of the deferent ducts and 3 microsatellites (detection rate of 86%): 283.50€
Study of carriers. Analysis of the mutations already identified and 3 microsatellites:94,71€
Antenatal diagnosis with a previous study of the family (direct analysis and 2 microsatellites): 725.72€

TYPE 1 NEUROFIBROMATOSIS

The aim is to make a diagnosis of carriers of the deletary gene in cases of family history (indirect genetic linking method) and conduct an exhaustive study into the gene in both occasional cases and family cases.

Direct mutational analysis of NF1 genes using the SSCA technique: 1,501.50€
Antenatal diagnosis of neurofibromatosis with a previous study of the family: 725.72€
Indirect study: 504.89€

CHARCOT-MARIE-TOOTH SYNDROME (CMT)/PRESSURE NEUROPATHIES (HNPP)

The objective is to elucidate the presence of occasional duplications /deletions or mutations that involve the PMP22 gene (17p11) (CMT/HNPP), mutations in gene MPZ (protein P0) (1q22) (CMT) or mutations in gene GJB1 (Cx32) (connexin 32) (Xq13.1) (CMT1X)

Study of duplications/deletions (1 sample): 525.11€
Occasional mutations involving gene GJB1 (Cx32) (patient or index case): 525.11€
Occasional mutations involving gene GJB1 (Cx32) (family probant): 202.00€
Occasional mutations involving gene PMP22 (patient or index case): 940.00€
Occasional mutations involving gene PMP22 (family probant): 202.00€
Occasional mutations involving gene MPZ (patient or index case): 940.00€
Occasional mutations involving gene MPZ (family probant): 202.00€
Antenatal diagnosis in foetal matter with a previous family study: 725.76€
Antenatal diagnosis in foetal matter without a previous family study: 2,303.70€