As a dedicated genetic counselor, Dr. Nirali Desai prioritizes listening at the heart of our care, creating a safe and respectful environment where concerns are addressed, feelings are recognized and support continues beyond the report. Our mission at HistoNe Genetic Clinic is to blend scientific expertise with compassion, ensuring that every person feels understood, supported and guided throughout their genetic counseling journey.
Providing services across India through tele-genetic counseling
Reproductive Genetics
Supporting every path to parenthood
From recurrent pregnancy loss and infertility to preimplantation genetic testing (PGT), we provide comprehensive genetic counseling for individuals and couples navigating complex reproductive journeys. We help you understand your options and make decisions aligned with your values.
Genetic evaluation for recurrent pregnancy loss and infertility
Chromosomal analysis for couples with repeated IVF failure
Psychosocial counseling
Carrier Testing & Family Planning
Plan your family with clarity
Carrier testing identifies whether you carry a gene variant for a recessive condition that could be passed to your children. We counsel couples before or during pregnancy on conditions like Thalassemia, Spinal Muscular Atrophy, Sickle Cell Disease, Cystic Fibrosis and other conditions based on the family history.
Pre-conception and prenatal carrier screening
Thalassemia, SMA and expanded carrier testing (based on family history)
Guidance for expectant parents on chromosomal conditions, structural anomalies and inherited disorders. We help you understand screening and diagnostic test results - including NIPT, Amniocentesis, CVS and navigate the options available to you.
Interpretation of prenatal screening and diagnostic results
Risk assessment for chromosomal conditions (Down syndrome, Edwards syndrome, etc.)
Guidance on invasive v/s non-invasive testing options
Emotional support for difficult prenatal findings
Birth Defects & Dysmorphic Facies
Putting a name to the picture
Children born with multiple congenital anomalies or unusual facial features often benefit from a genetic evaluation to identify an underlying syndrome or chromosomal condition. A diagnosis brings clarity, guides management and helps family planning.
Clinical dysmorphology assessment
Genetic test guidance
Psychosocial Counseling for the parents
Recurrence risk assessment and family planning support
Neurogenetics
Clarity for neurological conditions
For individuals and families affected by inherited neurological conditions - including Huntington's disease, hereditary ataxias, and muscular dystrophies — as well as for children with unexplained developmental delays, intellectual disabilities or multiple congenital anomalies, we guide through the full diagnostic journey from clinical evaluation to testing & interpretation
Systematic evaluation
Guidance on genetic testing
Interpretation of results including variants of uncertain significance
Psychosocial Counseling
Sensitive counseling for late-onset conditions (e.g. Huntington's disease)
Connection to patient support groups
Metabolic Genetic Disorders
Decoding the body's chemistry
Inborn errors of metabolism - including PKU, organic acidemias, fatty acid oxidation defects and lysosomal storage disorders - require early identification and precise management.
Newborn screening result interpretation and follow-up
Diagnosis of inborn errors of metabolism (PKU, MSUD, organic acidemias, etc.)
Guidance on dietary management and enzyme replacement therapy
Carrier testing and recurrence risk counseling for families
Hereditary Cancer Counseling
Know your risk, take control
For individuals with a personal or family history of cancer, we assess hereditary risk and guide appropriate genetic testing (BRCA1/2, Lynch syndrome and more). Understanding your genetic risk empowers proactive screening and prevention strategies.
Comprehensive family history analysis for cancer risk
BRCA1/2, Lynch syndrome and multi-gene panel testing guidance
Personalised surveillance recommendations
Coordination with oncologists and surgeons
Ocular Genetics
Preserving vision through genetic insight
Many eye conditions - including retinitis pigmentosa, Leber congenital amaurosis, congenital cataracts and glaucoma have a hereditary basis. We work alongside ophthalmologists to identify genetic causes, guide testing and counsel families on inheritance and emerging therapies.
Genetic evaluation for inherited retinal dystrophies and optic neuropathies
Hereditary kidney diseases - including polycystic kidney disease (PKD), Alport syndrome, nephrotic syndrome and congenital anomalies of the kidney and urinary tract (CAKUT) often go unrecognised as genetic conditions. We provide diagnosis, family counseling, and guidance on monitoring and treatment
Genetic evaluation for PKD, Alport syndrome, and hereditary nephropathies
Genetic workup and recurrence risk counseling
Gene panel guidance
Family screening and donor genetic evaluation
Cardiovascular Genetics
Protecting hearts across generations
Inherited heart conditions such as hypertrophic cardiomyopathy, long QT syndrome and familial hypercholesterolaemia can run silently in families. We assess hereditary cardiac risk and guide genetic testing to protect you and your relatives.
Risk assessment for inherited cardiomyopathies and arrhythmias
Guidance on cardiac gene panel testing
Cascade testing recommendations for at-risk family members
Collaboration with cardiologists for integrated care
Blood Disorders & Hematological Genetics
Understanding inherited blood conditions
Hereditary blood disorders - including thalassemia, sickle cell disease, hemophilia, and hereditary thrombophilia - are among the most common genetic conditions in India. We provide carrier screening, prenatal diagnosis and family counseling to reduce the burden of these conditions.
Carrier screening for thalassemia, sickle cell disease and other hemoglobinopathies
Prenatal diagnosis and genetic counseling for affected pregnancies
Risk assessment for future pregnancies
Family cascade testing
Skeletal & Connective Tissue Disorders
Strength in understanding your structure
Inherited skeletal dysplasias, osteogenesis imperfecta, Marfan syndrome, Ehlers-Danlos syndrome and other connective tissue disorders require expert genetic evaluation.
Genetic evaluation for skeletal dysplasias and short stature syndromes
Genetic evaluation for connective tissue disorders
Recurrence risk assessment
Pychosocial counseling
Genodermatoses
Genetic skin conditions, clearly explained
Genodermatoses are inherited skin disorders - including ichthyosis, epidermolysis bullosa, neurofibromatosis, tuberous sclerosis and ectodermal dysplasias. We guide families through genetic diagnosis, inheritance patterns and available management strategies.
Genetic evaluation for ichthyosis, EB, and other inherited skin disorders
Neurofibromatosis type 1 and 2 diagnosis and surveillance guidance
Over 50% - 60% of all hearing loss cases has a genetic basis. We provide genetic evaluation for non-syndromic and syndromic hearing loss (Usher, Pendred, Waardenburg syndromes), guide for comprehensive panel testing and counsel families on inheritance patterns.
Syndromic hearing loss evaluation
Genetic testing guidance
Newborn hearing screen follow-up and genetic workup
Recurrence risk counseling & connect to patient support groups
Endocrinological Genetics
Genetic roots of hormonal conditions
Many endocrine disorders including congenital hypothyroidism, congenital adrenal hyperplasia, maturity-onset diabetes of the young (MODY) and multiple endocrine neoplasia (MEN) have a genetic basis. We help identify hereditary endocrine conditions and guide appropriate management.
Genetic evaluation
Diagnosis and carrier counseling
Testing of at-risk family members
Coordination with endocrinologists for integrated care
Immunodeficiency Disorders
Genetic answers for immune challenges
Primary immunodeficiency disorders (PIDs) including severe combined immunodeficiency (SCID), common variable immunodeficiency (CVID) and chronic granulomatous disease are often caused by single-gene defects. Early genetic diagnosis is critical for timely treatment, including bone marrow transplantation.
Genetic evaluation for primary immunodeficiency disorders (PIDs)
Carrier testing and prenatal diagnosis
Genetic Counseling
Guidance on bone marrow transplant eligibility and gene therapy options
Hepatobiliary Genetics
Inherited liver and biliary conditions
Hereditary liver and biliary disorders - including Wilson's disease, hereditary haemochromatosis, alpha-1 antitrypsin deficiency, Alagille syndrome, and progressive familial intrahepatic cholestasis (PFIC) often present in childhood or early adulthood. Genetic diagnosis guides treatment, surveillance and family screening.
Genetic evaluation
Explanation of inheritance patterns
Carrier testing and recurrence risk assessment for families
Coordination with hepatologists for integrated genetic care
Pulmonary Genetics
Breathing easier with genetic clarity
Inherited lung conditions including cystic fibrosis, primary ciliary dyskinesia (PCD), hereditary pulmonary arterial hypertension require precise genetic diagnosis for optimal management. We guide families through testing, interpretation and long-term care planning.
Cystic fibrosis carrier screening and diagnosis
Genetic evaluation
Guidance on gene panel selection
Genetic Counseling
The Process
How a Consultation Works
01
Book an Appointment
Reach out by email, WhatsApp or directly book an appointment through the website or Instagram to schedule your session with Dr. Nirali Desai at a clinic location convenient for you or online (tele-genetic counseling).
02
Initial Consultation
Dr. Nirali reviews your personal and family medical history in a confidential, unhurried conversation to understand your concerns.
03
Testing & Interpretation
Appropriate genetic tests are recommended and results are explained in plain language - what they mean for you and your family.
04
Ongoing Support
Follow-up sessions, detailed written summaries and referrals to specialists ensure you are never left navigating your results alone.
Ready to Begin Your Genetic Counseling Journey?
Book a consultation with Dr. Nirali Desai today. We are here to guide you with clarity, compassion and expertise.
