Consultation Services

With 35+ years of expertise, Dr. Shubha Phadke provides personalized, evidence-based evaluation, counseling and management of rare and complex genetic disorders.

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Dr. Shubha Phadke
Clinical Genetics
Clinical Genetics

Diagnosis & management of chromosomal and monogenic disorders

Prenatal & Fetal Testing
Prenatal & Fetal Testing

Ultrasound, prenatal diagnosis & fetal sampling procedures

Genetic Counseling
Genetic Counseling

Risk assessment, pre/post-test counseling & family guidance

Genomic Testing
Genomic Testing

Microarray, exome/genome sequencing & molecular diagnostics

Consultation Services

Dr. Shubha Phadke provides holistic evaluation, counseling, testing and long-term management for a wide spectrum of genetic conditions.

Clinical Presentations (Cases for Referral)

Developmental & Neurological Disorders
Developmental delay Autism Neuromuscular Neurodegenerative Huntington Ataxia
Chromosomal Disorders
Down Syndrome Williams Syndrome Turner Syndrome Klinefelter Syndrome Translocations
Malformations & Multiple Malformation Syndromes
Prenatal anomalies Postnatal malformations Cardiac malformations Structural defects
Growth Disorders
Short stature Skeletal dysplasia Hormonal causes
Metabolic & Storage Disorders
Inborn errors Lysosomal storage Cholestatic disorders Sick infants
Hematological Disorders
Thalassemia Hemophilia Coagulation defects Platelet disorders
Reproductive GenetIcs & Prenatal diagnosis
Pregnancy loss Infertility Abnormal screenings Structural defects Atypical genitalia Delayed puberty
Monogenic Disorders
Wilson Disease Cystic Fibrosis SMA Skin disorders Eye disorders Bone disorders
Familial & Inherited Conditions
Childhood deafness Familial cancers Immunodeficiency Genetic relatives
Other Referrals
Unexplained stillbirths Advanced maternal age Consanguineous marriage Teratogen exposure Unusual skin/bone/eye diseases

Patient Care Services

  • ✔ Clinical evaluation & diagnostic testing
  • ✔ Genetic counseling before & after testing
  • ✔ Interpretation of cytogenetic & molecular results
  • ✔ Fetal evaluation & USG-guided sampling
  • ✔ Stillbirth evaluation & reproductive guidance
  • ✔ Genomic test interpretation (Microarray, Exome/Genome)
  • ✔ Long-term management of genetic disorders
Pedigree Example 1
Pedigree Example 2
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Consultation Details

Bharati Vidyapeeth Medical College, Pune

Professor, Medical Genetics

🗓 Days: Tuesday & Friday

⏰ Timings: 09:30 AM – 1:00 PM

Jupiter Hospital, Baner, Pune

🗓 Days: Monday, Thursday & Friday

⏰ Timings: 04:00 PM – 6:00 PM

Patient Education

Simple, reliable explainers to help you make informed decisions.

Down Syndrome Booklet

A patient-friendly guide to understanding Down Syndrome, its features and care approaches.

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Genetic Counselling

Explains the role and importance of genetic counseling for patients and families.

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Healthy Baby Booklet

Steps for ensuring a healthy pregnancy, early diagnosis and newborn care.

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Microarray Technique for Prenatal Diagnosis

A detailed overview of microarray technology in detecting genetic disorders before birth.

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PND – Down Syndrome Kya Hai? (Hindi)

A simple Hindi guide on prenatal diagnosis and understanding Down Syndrome.

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Prenatal Diagnosis – HOW

A step-by-step explanation of prenatal testing methods and what to expect.

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Thalassemia Prevention (English)

Awareness booklet on preventing thalassemia through carrier screening and prenatal testing.

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Thalassemia Prevention (Hindi)

Hindi awareness guide on thalassemia prevention, screening and family care.

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Have questions about genetic health?

Schedule a consultation to discuss your case with Dr. Phadke.

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