New Tests Available

Genetic testing for Tuberous Sclerosis

posted Sep 20, 2016, 2:42 AM by Vinod Scaria   [ updated Sep 20, 2016, 2:49 AM ]

Tuberous sclerosis is a rare disease which characterized by the growth of numerous benign tumours in different parts of the body. The tumours largely arise in the skin, brain, kidneys, and other organs. Almost all people affected have characteristic skin abnormalities, which usually present as patches of light-colored skin, areas of raised and thickened skin, and growths under the nails.

The disease is estimated to affect approximately 1 in 6,000 people worldwide.

Test description
Screening of exons of TSC1 and TSC2 gene using capillary sequencing. 

Please note: We would have a longer turnaround time for the initial patients being screened for this gene. The present expected turnaround time is estimated to be 12-24 weeks.

Genetic screening of Lamellar Icthyosis

posted Aug 24, 2016, 8:51 PM by Vinod Scaria   [ updated Sep 8, 2016, 7:19 AM ]

This test was developed as part of the CSIR800 project of Shruti Kapoor at as part of her PhD programme at Academy of Scientific and Innovative Research (AcSIR)
Lamellar Icthyosis is a dermatological condition characterized by thick and scaling skin. In neaonates and infants, this could manifest as a thick sheath, otherwise known as a colloidon membrane which dries and peels off during early weeks. Affected individuals may also manifest with additional features including hair loss, abnormal nails, redness of skin, recurrent infections, and thickening of palms/soles.

Mutations in TGM1 gene is responsible for majority of the cases of Lamellar Icthyosis

Test description
Screening of exons of TGM1 gene using capillary sequencing. 

Genetic Screening of Dowling-Degos Disease / Galli-Galli Disease

posted Aug 8, 2016, 10:16 PM by Vinod Scaria   [ updated Aug 8, 2016, 10:18 PM ]

Dowling-Degos disease is a pigmentary disorder of the skin characterized by reticular hyperpigmentation with generally a flexural distribution. Acantholysis is seen in some cases, and is generally classified as Galli-galli disease, though the general consensus is that Dowling-Degos and Galli-Galli disease are the spectrum of the same disease. The disease is extremely rare with only a handful of cases reported in literature and the population frequency is unknown. Several cases of the disease has been described previously from India and around the world.

Test description
Screening of (KRT5):c.10C>T mutation using capillary sequencing. 

Pharmacogenetic testing of 5-Fluorouracil

posted Aug 8, 2016, 10:09 PM by Vinod Scaria   [ updated Aug 8, 2016, 10:14 PM ]

  • Fluorouracil (5-FU) is a commonly used anticancer drug. It functions by irreversibly inhibiting thymidylate synthase.
  • 5-FU is widely used in a number of cancers worldwide and is in the WHO list of Essential Medicines.
  • Detoxification of 5-FU is mediated by the dihydropyrimidine dehydrogenase (DPD) gene. 
  • Apart from 5-FU, the gene also is involved in detoxification of Capecitabine, and Tegafur.
  • Genetic variations in the gene can cause a partial or complete deficiency of function, which may lead to drug toxicity, which are severe.
Pharmacogenetic testing is recommended on the FDA Drug label
The USFDA-approved drug label for fluorouracil states that the drug is contraindicated in patients with known DPD deficiency.
CPIC Dosing Guidelines for fluoropyrimidines recommends an alternative drug for patients who are homozygous for DPYD non-functional variants as these patients are typically DPD deficient and a 50% reduction for heterozygous patients.

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