Health Condition 1: Q00-Q99- Congenital malformations, deformations and chromosomal abnormalities Health Condition 2: Q878- Other specified congenital malformation syndromes, not elsewhere classified
Conditions
Interventions
Control Intervention1: Nil: Nil
Sponsors
Seth G.S. medical college and K.E.M hospital
Eligibility
Inclusion criteria
Inclusion criteria: 1. Case sheets of children from birth to 18 years of age 2. More than one genetic disease diagnosed by one or combination of more than one molecular test (like WES, clinical exome, microarray, Sanger sequencing, PCR, MLPA, FISH) and Karyotyping. 3. Patients with variants of uncertain significance (VUS) resolved by additional testing, reverse phenotyping or literature review establishing deleterious effect of VUS.
Exclusion criteria
Exclusion criteria: 1. Incomplete data in retrospective case records. 2. Patients with unresolved variants of uncertain significance (VUS).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. To determine the frequency of individual patients with multiple genetic diseases 2. To assess the correlation between the clinical diagnosis and molecular diagnoses in the study participants 3. To identify which broad groups of genetic disorders reveal a correlation between clinical and molecular diagnosisTimepoint: 12 months | — |
Secondary
| Measure | Time frame |
|---|---|
| Not applicableTimepoint: Not applicable | — |
Countries
India
Contacts
Public ContactDr Palak Agarwal
KEM hospital
Outcome results
None listed