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POMK Gene Limb-girdle muscular dystrophy autosomal recessive type 12C Genetic Test

4,400 د.إ

-21%

The POMK gene limb-girdle muscular dystrophy autosomal recessive type 12C genetic test is a specialized diagnostic procedure aimed at identifying mutations in the POMK gene, which are responsible for causing limb-girdle muscular dystrophy type 12C (LGMDR12). This form of muscular dystrophy is characterized by progressive weakness and wasting of the limb-girdle muscles, which are the muscles around the shoulders and hips. Early symptoms often include difficulty walking or climbing stairs, and the condition can progressively lead to more severe mobility issues.

The test is conducted by DNA Labs UAE, a reputable facility known for its advanced genetic testing capabilities. The procedure involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory to detect any genetic mutations in the POMK gene. Identifying these mutations can confirm a diagnosis of LGMDR12, which is crucial for the management and treatment of the condition.

The cost of the test is set at 4400 AED, reflecting the specialized nature of the analysis and the expertise required to accurately interpret the results. For individuals showing symptoms of limb-girdle muscular dystrophy or those with a family history of the condition, this test provides a valuable diagnostic tool. It not only aids in confirming the specific type of muscular dystrophy but also helps in guiding treatment decisions and genetic counseling for affected families.

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POMK Gene Limb-girdle muscular dystrophy autosomal recessive type 12C Genetic Test

Components: POMK Gene Limb-girdle muscular dystrophy autosomal recessive type 12C Genetic Test

Price: 4400.0 AED

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Method: NGS Technology

Test type: Neurological Disorders

Doctor: Neurologist

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C

Test Details

POMK gene limb-girdle muscular dystrophy, autosomal recessive type 12C (LGMDR12C) is a rare genetic disorder characterized by progressive muscle weakness and wasting primarily affecting the muscles of the limbs. It is caused by mutations in the POMK gene, which is involved in the glycosylation of proteins necessary for normal muscle function.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously for the presence of mutations or variations. In the case of LGMDR12C, NGS genetic testing can identify mutations in the POMK gene that are associated with the disorder. This type of testing allows for a comprehensive analysis of multiple genes, providing a more efficient and cost-effective approach compared to traditional sequencing methods.

NGS genetic testing for LGMDR12C can be performed using a DNA sample, typically obtained through a blood or saliva sample. The DNA is sequenced, and the resulting data is analyzed to identify any mutations or variations in the POMK gene that may be causative or associated with the condition.

The results of the NGS genetic test can provide valuable information for diagnosis, genetic counseling, and potential treatment options. It can help confirm a suspected diagnosis of LGMDR12C and provide information about the specific genetic variant involved. This information can also be useful for predicting disease progression, assessing the risk of recurrence in future pregnancies, and guiding potential therapeutic interventions.

It is important to note that NGS genetic testing for LGMDR12C is typically performed by specialized laboratories or genetic testing centers. A healthcare professional, such as a genetic counselor or medical geneticist, can help determine if this test is appropriate and guide individuals through the testing process.

Test Name POMK Gene Limb-girdle muscular dystrophy autosomal recessive type 12C Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C
Test Details

POMK gene limb-girdle muscular dystrophy, autosomal recessive type 12C (LGMDR12C) is a rare genetic disorder characterized by progressive muscle weakness and wasting primarily affecting the muscles of the limbs. It is caused by mutations in the POMK gene, which is involved in the glycosylation of proteins necessary for normal muscle function.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously for the presence of mutations or variations. In the case of LGMDR12C, NGS genetic testing can identify mutations in the POMK gene that are associated with the disorder. This type of testing allows for a comprehensive analysis of multiple genes, providing a more efficient and cost-effective approach compared to traditional sequencing methods.

NGS genetic testing for LGMDR12C can be performed using a DNA sample, typically obtained through a blood or saliva sample. The DNA is sequenced, and the resulting data is analyzed to identify any mutations or variations in the POMK gene that may be causative or associated with the condition.

The results of the NGS genetic test can provide valuable information for diagnosis, genetic counseling, and potential treatment options. It can help confirm a suspected diagnosis of LGMDR12C and provide information about the specific genetic variant involved. This information can also be useful for predicting disease progression, assessing the risk of recurrence in future pregnancies, and guiding potential therapeutic interventions.

It is important to note that NGS genetic testing for LGMDR12C is typically performed by specialized laboratories or genetic testing centers. A healthcare professional, such as a genetic counselor or medical geneticist, can help determine if this test is appropriate and guide individuals through the testing process.