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B.Sc, M.Sc, Ph.D (Molecular Genetics)
Dr. Himani Pandey is a trained geneticist who has long experience of working in the aspects of human clinical genetics. She has more than 15 years of experience in molecular biology, molecular diagnostics, genomics, and genetic testing using Next Generation Sequencing (NGS) and Sanger. She has more than 16 publications in reputed journal. Dr. Himani is heading the lab for automated library preparation and sequencing of Whole Exome, Whole Genome, using different and platforms MGI and illumina sequencer. She has also done certain cortication's including MGI WES (NGS), HLA Typing (NGS), NIPT Yourgene (NGS), Genetittan Microarray Platform.
Area of Expertise
Molecular diagnosis of genetic disorders-
❖ Beta Thalassemia (HBB)
❖ Noonan syndrome (PTPN11)
❖ Hunter syndrome (IDS)
❖ Ectodermal dysplasia A (EDA)
❖ Cockayne syndrome (CKN2)
Von Hippel Lindau (VHL) syndrome
Fabry disease (GLA)
Klippel-Feil syndrome (4 genes- GDF1, GDF3, GDF6, RIPPLY2)
❖ Hearing loss (connexin 26)
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome (MBTPS-2) Glucose-6-phosphate dehydrogenase (G6PD3 common mutations mutations)
❖ HFE gene mutations
❖ CYP11B2 gene mutations (Aldosterone deficiency syndrome)
❖ Saposin B gene mutations
❖Vici Syndrome (EPG5)
❖ Hemochromatosis (HFE -two common)
Spondyloepiphyseal dysplasia with congenital joint dislocations CHST3 related
disorder (SED - Omani)
❖ Trechar Collin (TCOF1)
❖ Muscular dystrophy and congenital myopathy (TTN)
Cystic fibrosis One common mutation (Delta F 508)
Achondroplasia
❖ Frontonasal dysplasia 1,2and 3 (ALX3,ALX4,ALX1)