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All Posts in Category: Genetic Study

A rare case of a male child with post-zygotic de novo mosaic variant c.538C>T in MECP2 gene: a case report of Rett syndrome

Rett syndrome (RTT) is characterized by a normal perinatal period with a normal head size at birth followed by normal development for the first 6 months of life followed by gradual deceleration of head growth, loss of acquired purposeful hand skills, severe expressive and receptive language impairment, severe intellectual disability and gait and truncal apraxia/ ataxia. It is caused due to mutations in the MECP2 gene and follows an X-linked dominant mode of inheritance. It was observed exclusively in females and was believed to be lethal in males. In contrast to this belief, several males were identified with RTT upon genetic analysis, however, most males expired by the age of 2 years due to neonatal encephalopathy. The ones that survived beyond the age of 2 years, were attributed to the presence of an extra X chromosome (co-occurrence of Klinefelter and RTT) or the ones having mosaic cell lines. Only 11 males with somatic mosaicism are known till date.

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Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report

A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, cooccurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare .

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ASD Genetic Study


Autism Spectrum Disorder (ASD) is one of the most common Developmental Disorders with a prevalence of (1:68) in India.

Genetic causes like fragile x, Rett’s syndrome, chromosome 15q11-q13 duplication and others are being increasingly being identified in many children with ASD.

Identification of the genetic cause can help in determining prognosis for the child, management and counselling for subsequent pregnancies.

However, ASD genetics are currently not studied systematically in India leading to a low diagnostic rate.

Also the high cost of the genetic tools (around Rs 20,000 for microarray, 25-28,000/- Rs for whole-exome sequencing makes it difficult to carry out the tests in many of the kids.

Aim: The study aims to identify genetic causes of ASD through the utility of microarray and whole-exome sequencing .

Selection criteria: The study will recruit 100 idiopathic ASD children with age between 2.6- 15 years, who have been diagnosed as being on the spectrum using DSM V criteria and have a normal karyotype at 500 band resolution.

Blood samples of both parents will also be collected at the time of recruitment to carry out inheritance analysis in cases where a genetic cause has been identified.

All male child’s samples will be analysed for CGG repeats in the FMR1 gene to rule out Fragile X, before being analysed with microarray.

In cases where microarray 750k analysis yields no results, the DNA may be analysed for single nucleotide variants (SNV) using whole-exome sequencing.

The Hard copy of the reports will be provided to the child’s family and the referring doctor.

All analysis will be conducted free of cost, under the funding guidelines set out by the


In cases where the karyotype had not been carried out initially, the study team will carry out karyotype analysis at a discounted rate of Rs. 2000/- INR.

For clinical query please contact:

Dr Deepika Jain

([email protected])

For query related to Genetic Analysis Please contact study PI

Dr Frenny Sheth

([email protected])
Or Study CO-I

Dr Harsh Sheth

([email protected])

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