Short Description

NGS genetic DNA test detecets for variant and mutation detection in FAT1 gene for Facioscapulohumeral dystrophy-like phenotype, FAT1 related

PreTest Information

Clinical History of Patient who is going for FAT1 Gene Facioscapulohumeral dystrophy-like phenotype, FAT1 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FAT1 Gene Facioscapulohumeral dystrophy-like phenotype, FAT1 related

Detail Description

FAT1 Gene Facioscapulohumeral Dystrophy-Like Phenotype: Symptoms, Diagnosis, and DNA Testing

Facioscapulohumeral dystrophy (FSHD) is a genetic muscle disorder that affects the face, shoulders, and upper arms. However, some patients with similar symptoms may not have FSHD but rather a phenotype that mimics it. Recent studies have identified mutations in the FAT1 gene that cause a FSHD-like phenotype. In this blog, we will discuss the symptoms, diagnosis, and DNA testing for FAT1 gene-related FSHD-like phenotype.

Symptoms of FAT1 Gene FSHD-like Phenotype

The symptoms of FAT1 gene FSHD-like phenotype are similar to those of FSHD. Patients may experience weakness and wasting of the facial muscles, shoulders, and upper arms. However, unlike FSHD, the weakness may not spread to other parts of the body, and patients may not experience foot drop or difficulty walking. Additionally, FAT1 gene-related FSHD-like phenotype may have a later onset and a slower progression compared to FSHD.

Diagnosis of FAT1 Gene FSHD-like Phenotype

Diagnosis of FAT1 gene-related FSHD-like phenotype involves a thorough clinical evaluation, including a physical exam and medical history review. However, since the symptoms mimic those of FSHD, a genetic test is necessary to confirm the diagnosis.

DNA Testing for FAT1 Gene FSHD-like Phenotype

Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations that cause FSHD-like phenotypes. DNA Labs India offers a FAT1 gene-related NGS genetic DNA test that can identify mutations in the FAT1 gene associated with FSHD-like phenotypes. The test costs INR 20,000 and requires a blood or saliva sample.

Conclusion

FAT1 gene-related FSHD-like phenotype is a rare genetic muscle disorder that mimics FSHD. The symptoms, diagnosis, and DNA testing for FAT1 gene-related FSHD-like phenotype are similar to those of FSHD. A thorough clinical evaluation is necessary, but genetic testing is required to confirm the diagnosis. DNA Labs India offers a FAT1 gene-related NGS genetic DNA test that can identify mutations in the FAT1 gene associated with FSHD-like phenotypes.

If you or a loved one is experiencing symptoms similar to FSHD, contact DNA Labs India to schedule a consultation and genetic test to determine if FAT1 gene-related FSHD-like phenotype is the cause.