Seven year old Kiara (name changed) presented with severe fatigue and malaise was referred to leading cancer centre in Kolkata. The treating clinician after examinations suspected the disease to be as Myelodysplastic Syndrome (MDS) which is a result of bone marrow failure to produce healthy blood cells.
Although, most of the cases involving MDS are sporadic, there are instances where some patients are predisposed to MDS and Acute Myeloid Leukemia.
The clinician referred the case for advanced genetic testing for a confirmatory prognosis. At MedGenome, a whole exome sequencing (genetic test) was done using next-generation sequencing and a potentially damaging heterozygous mutation was identified. Mutation in RPL35A gene on Chromosome 3 was identified as a cause. RPL35A gene is responsible for the proliferation and viability of blood cells. This mutation helped the clinician conclude the exact disease- Diamond-Blackfan Anemia and hence decide the further course of action.
In Diamond-Blackfan anemia, the bone marrow fails to generate enough blood cells resulting in shortage of RBCs whose primary role is to carry oxygen to different tissues of the body. Treatment of such diseases generally involve blood transfusion, bone marrow transplant or medication depending on the severity of the case. The diagnosis helped in Kiara’s clinical care and today she is on steroid treatment and is now transfusion independent.
There are several cases like above which are solved by genetic testing at MedGenome and help the clinicians either to better manage or treat the diseases and prevent the genetic disease in affected families.
Summary
- Genetic testing helps accurate diagnosis of Diamond-Blackfan Anemia as against the suspected Myelodysplastic Syndrome
- Based on the accurate diagnosis, the treating clinician could decide on the further course of action
About MedGenome
MedGenome is a leading solution provider of clinical genomics which offers genetic testing across various disease areas like neurology, oncology, cardiology, rare inherited diseases, endocrinology, hematology, pre natal, population genomics etc. MedGenome’s diagnostics tests include many breakthroughs for genetic diagnostics including liquid biopsy, non-invasive prenatal screening test (NIPT), carrier screening, and whole exome sequencing for cost-effective identification of rare mutations at its CAP certified lab in Bangalore.
MedGenome is a leading solution provider of clinical genomics which offers genetic testing across various disease areas like neurology, oncology, cardiology, rare inherited diseases, endocrinology, hematology, pre natal, population genomics etc. MedGenome’s diagnostics tests include many breakthroughs for genetic diagnostics including liquid biopsy, non-invasive prenatal screening test (NIPT), carrier screening, and whole exome sequencing for cost-effective identification of rare mutations at its CAP certified lab in Bangalore.
| Medgenome offers | Test Sample requirements | Required forms | TAT |
| Whole exome sequencing SureSelectV5 – 50MB (80-100x) |  | Test requisition form along with relevant clinical information including pedigree. consanguinity. age of onset, clinical presentation and symptoms | 28 days |
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