Donor genetic passport
We create it in order to avoid having a baby with common hereditary monogenic diseases. Everyone has a risk of having children with genetic disorders. A person can be healthy and not even aware of this disease but also be a genetic carrier.
Everyone can be a genetic carrier but it is important for a couple that is going to choose a donor to know that their donor is not a carrier of the mutations that the recipient has, as in case of coincidence of similar mutations in the genes, the child may have an autosomal recessive disease.
Genetic donor passport shows the presence or absence of heterozygous carriers of mutations in the genes that lead to common hereditary diseases.
It is clear that we are talking only about the most common mutations, but this knowledge will help the couple to choose the right donor and have a healthy baby.
The list of diseases for examination:
- MECP2 -connected diseases (Rett syndrome, Severe neonatal encephalopathy, PPM-X syndrome)
- ataxy telangiectasis
- amyotrophic lateral sclerosis
- lenticular progressive disease
- Niemann-Pick disease, Niemann-Pick C1 disease
- Charcot-Marie-Tooth disease
- epidermolysis bullosa
- Congenital Disorders Of Glycosylation
- von Gierke's disease (type 1 glycogenosis)
- MCAD deficiency
- Mutations in the ACAD9 gene
- Diastrophic dysplasia
- Refsum syndrome
- Harlequin ichthyosis
- Metachromatic leukodystrophy
- cystic fibrosis
- type I mucopolysaccharidosis
- neonatal leukodystrophy
- recessive multiple epiphyseal dysplasia
- familial dysautonomia
- Aarskog-Scott syndrome
- mtDNA depletion syndrome/spinocerebellar ataxia with epilepsy, progressive external ophthalmoplegia;
- Miller syndrome
- Rubinstein-Teybi syndrome
- Smith-Lemley-Opitz syndrome
- Ascher syndrome
- Nijmegen breakage syndrome
- Zellweger syndrome
- Tyrosinemia type 1
- thrombotic thrombocytopenic purpura
- chondro ectodermal dysplasia.