Saquib A. Lakhani, MD



Conditions & Treatments

Pediatric Genetics


Saquib Lakhani, MD, clinical director of Yale Medicine’s Pediatric Genomics Discovery Program (PGDP), specializes in caring for newborns and infants with undiagnosed birth defects. As a pediatrician, Dr. Lakhani treats young patients in critical condition and those with chronic health problems. 

In his role at the PGDP, Dr. Lakhani works with genetic researchers to understand and interpret the results of patients’ genetic sequencing tests. “The intellectual aspect of my job is incredible,” he says. “I’m constantly exploring, learning, and facing new challenges.” The improvements in genetic sequencing technology allow the team at PGDP to help families answer a haunting question: Why did this happen to my child?

Dr. Lakhani recalls helping a family whose first child was born with heterotaxy, a rare birth defect in which the heart, stomach, intestines, and other organs are located in abnormal places. While mutated genes are suspected to cause heterotaxy, the family did not know which gene might be responsible in their particular case. After sequencing the genome of the parents and child, he discovered a possible culprit. “If the parents want to have another child, then we could, through in vitro fertilization, possibly choose eggs from the mother and sperm from the father without this mutation,” Dr. Lakhani says.





Affiliated With

Yale Medicine, Yale New Haven Children’s Hospital


Education & Training


University of Virginia Medical School


St. Louis University School of Medicine


University of Arizona;Yale University School of Medicine

Accepted Insurance

Insurance coverage regularly changes, please contact the doctor’s office directly to verify that your specific insurance plan is accepted.

  • aetna
  • anthem bc/bs
  • berkeley care network
  • cigna healthcare
  • community care network
  • connecticare
  • corvel
  • first health network
  • focus healthcare
  • great west
  • husky
  • medicaid
  • medicare
  • multiplan
  • oxford health plans
  • railroad medicare
  • tricare/champus
  • united healthcare
  • us family health plan
  • wellcare