Patient Care

    Medical Genetics: Comprehensive Patient Care Facilities

    The first and the only centre providing comprehensive diagnostic, management and prenatal diagnostic services for Uttar Pradesh and neighbouring states. The department has OPDs 6 days a week with special clinics for Down syndrome, Hemophilia and familial cancers, once a month each. Patients can register online and take online appointments. New patients need to get registration done before 11 am, so that they can be seen on the same day. Patients on follow up, should take an appointment for next visit and should preferably come on the date of the appointment. Patients needing emergency treatment are seen in the emergency of the hospital; 24 X 7. OPD phone number-05222496447 Appointment can be taken telephonically during working hours of the hospital [9am to 4.30 pm] on all days except Saturdays and holidays

    OPD SCHEDULE

    Day

    Consultant I

    Consultant

    Monday

    Dr Shubha Phadke

    Dr Deepti Saxena, Dr.A. Haseena

    Tuesday

    Dr Kausik Mandal

    Dr Amita Moirangthem, Dr. Somiya Srivastava

    Wednesday

    Dr Deepti Saxena

    Dr Amita Moirangthem, Dr. Somiya Srivastava

    Thursday

    Dr Shubha Phadke

    Dr Kausik Mandal, Dr. A. Haseena

    Friday

    Dr Shubha Phadke

    Dr Amita Moirangthem, Dr. A. Haseena

    Saturday

    Dr Kausik Mandal

    Dr Deepti Saxena, Dr. Somiya Srivastava

     

    SPECIALITY CLINICS SCHEDULE

    Speciality Clinic

    Day

    Consultant

    Down Syndrome Clinic

    First Saturday of month (10AM -1:00PM)

    Dr Amita Moirangthem

    Haemophilia clinic

    Second Saturday of month (10AM -1:00PM)

    Dr Shubha Phadke

    Familial Cancer Clinic

    Third Saturday of Month (10AM -1:00PM)

    Dr Deepti Saxena

     

    Laboratory Services

    Genetic Diagnostics: Diagnosis for common and rare genetic disorders is available in the departmental laboratories and includes latest technologies like cytogenetic microarray and next generation sequencing (NGS). In addition to traditional karyotyping, over the last 10 years the tests based on the following techniques are established.

    1.     MLPA: Duchenne muscular dystrophy, spinal muscular dystrophy, alpha thalassemia, Hunter syndrome, Von Hippel Lindau syndrome, subtelomeric microdeletions / duplications, common disorders for mental retardation, Y chromosome microdeletions

    2.     Cytogenetic microarray

    3.     Sanger Sequencing: More than 50 genes

    4.     NGS: Computational analysis and bioinformatics

    5.     Triplet Repeat Disorders: More than 5 disorders

    6.     QF-PCR

    7.     Enzyme assays: For Inborn Errors of Metabolism

    INVESTIGATIONS LIST

    Cytogenetics

    1

    Cytogenetic microarray

    2

    Karyotype for antenatal diagnosis

    3

    Karyotyping from blood

    4

    Karyotyping from skin

    5

    MLPA for subtelomeric region

    6

    MLPA for common microdeletion / microduplication syndromes

    7

    QF PCR for common aneuploidies

    8

    MLPA for common aneuploidies

    Biochemical Genetics

    1

    Alpha Galactosidase A activity (Fabry Disease)

    2

    Arylsulfatase A Activity (Metachromatic Leucodystrophy)

    3

    Arylsulfatase B Activity (Marateaux Lamy Syndrome)

    4

    Biotinidase Activity

    5

    G6PDH enzyme activity

    6

    Glucosidase activity ( Gaucher disease)

    7

    QHexosaminnidase A & B activity (Tay Sachs disease & Sandoff disease)

    8

    Beta-galactosidase (GM1 Gangliosidosis)

    Genetic Hematology

    1

    Autohemolysis test

    2

    Beta Thalassemia screening - HPLC for Hemoglobin

    3

    Osmotic Fragility Curve

    4

    Plasma Hemoglobin

    5

    Hb separation & Quantification by HPLC

    6

    Porphobilinogen

    Monogenic Disorders - Mutation Analysis

    1

    Sequencing Hemophilia B gene

    2

    Sequencing MECP2 gene

    3

    Sequencing MEN2 (One common mutation)

    4

    Sequencing VHL

    5

    Sequencing Apert (2 common mutations)

    6

    Sequencing for Connexin 26 gene

    7

    Sequencing for Connexin 26 gene

    8

    Sequencing for Achondroplasia [One common mutation]

    9

    Sequencing for HBB gene - Beta Thalassemia

    10

    HLA B27

    11

    MLPA for Spinal Muscular Atrophy [SMN1]

    12

    MLPA for copies of alpha globin gene

    13

    Myotonic Dystrophy

    14

    Molecular diagnosis of Fragile X syndrome

    15

    Molecular Genotyping of Spinocerebellar ataxia

    16

    Friedreich ataxia (TP-PCR)

    17

    Factor 8 inv intron 22 for Hemophilia A

    18

    Sequencing - Hemachromatosis (2 common mutations)

    19

    Sequencing - Hemachromatosis (2 common mutations)

    20

    MLPA for Duchenne Muscular Dystrophy

    21

    Sequencing Caffey Disease (one common mutation)

    22

    Sequencing GSD1A gene

    Procedure

    1

    Amniocentesis

    2

    Chrionic Villus Sampling

    3

    Fetal Autopsy

    4

    Fetal Blood Sampling

    5

    Fetal ECHO and Doppler

    6

    High resolution USG for fetal malformation

    7

    Obstetric Ultrasound