fbpx

Targeted Mutation Screening

Ensuring a healthy and successful pregnancy

Genetic Testing by TMS

Viafet’s Targeted Mutation Screening is an efficient diagnostic tool that utilizes various genetic techniques, such as Sanger Sequencing, MLPA, and triplet PCR,  to identify the mutated gene or genes causing a disease or disability in your family. It is a targeted approach, making this the most cost effective solution for our patients.

Indicators of Inherited Disease Testing by TMS

You and your family will benefit from targeted mutation screening if:

  • You have a genetic condition running through your family that is caused by a specific mutation such as  Sickle Cell Anemia and Spinal Muscular Atrophy.
  • There is a genetic report of a family member indicating a disease causing mutation which you would like to be screened for
  • The gene implicated in the genetic condition in your family is of small size. Examples include Beta-Thalassemia and Connexin 26 (hearing loss)

Most Common Genetic Diseases Tested by TMS

  • Beta Thalassemia

Beta Thalassemia stands as one of the most prevalent disorders  in the Middle East. This blood disorder is characterized by reduced hemoglobin production leading to anemia and fatigue.  It occurs as a result of mutations in the HBB gene. Viafet provides a thorough genetic test offering complete gene sequencing of HBB for precise identification of genetic mutations, ensuring a quick and cost-effective analysis.

  • Spinal Muscular Atrophy (SMA)

SMA is a rare genetic disorder characterized by the loss of motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. It is caused by mutations in the SMN1/2 genes. Around 95% of SMA cases are attributed  by a deletion in exon 7 in SMN1. Additionally, the variability in the number of SMN2 gene copies in individuals with SMA contributes to the condition’s severity. Viafet provides MLPA testing for SMN1/2, catering to individuals affected by SMA or those suspected of carrying the genetic trait.

  • Fragile X

Fragile X syndrome, a genetic condition associated with diverse symptoms ranging from premature ovarian failure to developmental disabilities.  It  arises from a variant in the FMR1 gene inherited in an X-linked dominant pattern.Viafet utilizes Polymerase Chain Reaction (PCR) to meticulously analyze abnormal trinucleotide repeat expansion in the CGG segment of the FMR1 gene. This detailed analysis not only identifies the severity of the disease but also assesses the risk for potential offspring in the future.

  • Congenital Adrenal Hyperplasia (CAH)

Congenital Adrenal Hyperplasia (CAH) is a genetic disorder impacting the adrenal glands, leading to excessive hormone production. Common symptoms encompass irregular development of sexual characteristics, electrolyte imbalances, and potential life-threatening adrenal crises. This disease is predominantly caused by mutations in the CYP21A2 gene, affecting cortisol production. CAH can be effectively diagnosed through Viafet’s comprehensive gene screening panel, employing Sanger sequencing and MLPA for precision and accuracy. Timely testing is imperative, as early diagnosis facilitates prompt intervention to ensure normal development.

  • Y Chromosome Microdeletion

Y microdeletion testing is a genetic analysis that examines the Y chromosome for small deletions-  microdeletions. This test is primarily used to assess the risk of male infertility by identifying specific gene regions on the Y chromosome, such as the AZF regions. Microdeletions in these regions can impact sperm production, leading to conditions like azoospermia or oligospermia. Results from the test can guide treatment options and provide valuable information for genetic counseling and family planning in cases of male infertility.

Why Viafet

Opting for targeted genetic testing is an indication that you are seeking a more personalized strategy to manage your health. At Viafet, we pride ourselves for having built a name that is synonymous with expert genetic testing. At Viafet we provide: 

  • Tailored Strategies for Each Family
  • Offering Diverse Genetic Techniques
  • Expertise in Analyzing Familial Mutations
  • Versatility in Testing Various Specimen Types
  • Exceptional Counseling Services
  • Economical Genetic Testing with Swift Turnaround Time

SEND US A MESSAGE