A superspeciality health care hospital
   

            Department of Genetic Medicine

Faculty

Dr. I.C. Verma
(Chairperson)

Clinical Genetics
Dr. I.C. Verma
Dr. Ratna Puri
Dr. Sunita Bijarnia
Dr. Seema Thakur

Cytogenetics 
Dr. Meena Lall

Molecular Genetics
Dr. Renu Saxena
Dr. Sudha Kohli

HLA section
Dr. Monika Jain

Biochemical Genetics
Dr. Jyotsna Verma

Information Brochures

Clinical Diagnosis & Genetic Counseling
Molecular Diagnostic Tests
Biochemical Testing Facilities
Chromosomal / Cytogenetics
Prenatal Diagnostic Facilities
Steps in Prenatal Diagnostic of Beta Thalassemia
 HLA Typing
 Immunohistochemical studies on muscle
New tests
Genetic Studies in Severely Sick/ Genetic Autopsy
Collection of Samples
Special Instructions for Sample Collection and Dispatch
Consent forms and Clinical request forms

What New!!

  1. Newborn Screening for metabolic disorders to prevent mental retardation using a drop of blood on filter paper

  2. Diagnostic tests by Gene Sequencing:

    1. Albinism (OCA type 1) - Tyrosinase gene

    2. Rett syndrome - MECP2 gene sequencing & testing for deletion

    3. Thalassaemia - Sequencing β-globin gene

    4. Deafness - Connexin 26 (GJB2) gene

    5. Wilson disease - ATP7B gene

    6. Crigler Najjar syndrome - UGT1A1 gene - promoter polymorphism & sequencing

    7. Spinal Muscular atrophy - SMN 1 gene

    8. Congenital adrenal hyperplasia - Cyp21 gene

    9. Waardenburg syndrome - Pax 3 gene

    10. Hypohidotic X linked ectodermal dysplasia

    11. Cystic megalencephaly of van der Knaap - MLC1 gene

    12. Canavan disease - Asparto asylase (ASPA) gene

  3. Diagnostic Tests by Targetted Gene Sequencing

    1. Hypochondroplasia - Tyrosine Kinase Domain of Fibroblast Growth
      Factor Receptor 3 Gene (C1620A mutation)

    2. Crouzon disease : FGFR2 mutation: (Ser 354 Cys)

    3. Non-Syndromic non-specific Craniosyntosis (including coronal) - FGFR3
      Gene (C749G - Pro250Arg Mutation)

    4. McArdle's disease - Myophosphorylase gene (Arg49stop mutation

    5. Acute intermittent porphyria: Mutation in Exon15 of PBGD gene (founder mutation in India)

    6. Waardenburg-Shah syndrome - Mutation in exon 3 of EDN3 gene-380A>G (Y127C)

    7. Restrictive dermopathy Exon 6: Zmpste24 gene - C691G>T (Glu231X mutation)

    8. Homocystinuria - Cystathionine-beta-synthase gene (CBS) Exon 4:518delTGA

  4. OSCAR (One Stop Clinic for Assessment of Risk in Foetal Anomalies) using Perkin Elmer's DELFIA Xpress - Biochemical screening during pregnancy - 1st & 2nd Trimester.

Genetics is the new frontier in medicine. To bring the benefits of the Human Genome Project to patients, the Department of Genetic Medicine was established in 1997. The department has developed into the leading genetic center in India. Samples are received for testing from all over India, as well as from Bangladesh, Pakistan, Sri Lanka and UAE.

A wide variety of facilities are available ranging from Genetic counseling, cytogenetic tests, molecular tests, HLA, immunohistochemical and biochemical testing. Prenatal diagnosis is also performed using the above mentioned technologies for various chromosomal and genetic disorders.

In our constant endeavor to keep pace with the rapid advances in Genetics all over the world, in order to help our patients, we develop and establish new tests for diagnostic purpose. In our most recent developments, we have set up technology for DNA diagnosis of cystic megalencephaly (large head), quantitative amino acidogram (HPLC) in urine/plasma/CSF, FISH (Fluorescent in-situ hybridization) studies for rapid prenatal diagnosis of chromosomal aneuploidies as well as for leukemia. Prenatal diagnosis is also performed for genetic disorders like achondroplasia, albinism, Rh genotyping, mitochondrial disorders and lethal skeletal dysplasias. Fetuses with major malformations and skeletal dysplasias are also taken for fetal autopsies.

Since the establishment of the department in 1997 it has rapidly expanded the extent of services. Currently, it is the leading genetics center in India. It offers comprehensive services for the diagnosis, management and counseling of genetic disorders.

Directory of Services and Laboratory Tests

1. Clinical Diagnosis and Genetic Counseling:

Genetic counselling is provided to approximately 3000 patients per year coming from all over the country. Three clinical consultants with training in genetic medicine provide genetic counselling making extensive use of computerised databases.Diagnostic precision is achieved by consulting the following computerized databases:

  • London Dysmorphology Database

  • London Neurogenetics Database

  • McKusicks Mendelian Inheritance in Man

  • Schinzels Chromosomal Disorders Database

  • Briggs Drugs in Pregnancy and Lactation for Fetal and Neonatal Risks

  • Frazels French Genome Database

    •

Genetic counseling is given to the patient and the family explaining the disorder, its management, implications of the test results, the options available and prognosis of the disorder. Specially designed charts and diagrams are used for genetic counseling to explain the disease and its implication in simple terms.

Some indications for genetic counselling are as follows:

  • Advanced maternal/paternal age

  • Child with congenital anomaly or dysmorphology

  • Mental retardation/developmental delay

  • In-born errors of metabolism

  • Consanguinity

  • Family history of heritable disorders or diseases, including

    • Adult onset

    • Complex/multifactorial inheritance

    • Chromosomal abnormality

    • Single gene disorders, most commonly Thalassemias, Muscular dystrophies, spinal muscular atrophy etc.

  • Pregnancy screening abnormality, including:

    • Maternal serum alpha fetoprotein

    • Maternal serum triple screen

    • Prenatal ultrasound examination

  • Stillborn with congenital anomalies

  • Teratogen exposure or risk

  • Recurrent abortions

In the clinical section of the department, certain diagnostic procedures are also perfomed for genetic disorders. They are:

  • Muscle biopsy: Cases of muscular dystrophies are not rare in our population and diagnostic precision is required to predict prognosis and for genetic counselling of the family at risk, including prenatal diagnosis.

  • Skin biopsy: In children or adults with skin disorders like inherited ichthyosis/epidermal bullosa, or enzyme defects, a skin biospy is needed for an accurate diagnosis. Some metabolic diseases or chromosomal disorders also require skin fibroblast culture for accurate analysis. This is performed on OPD basis.

  • Fetal genetic autopsy: Cases of unexplained fetal deaths or with fatal/major congenital malformations in pregnancy detected on ultrasound are sent to us for complete genetic evaluation inorder to ascertain the risk of recurrence. Fetal autopsy is done as part of the evaluation for an accurate diagnosis.

  • Stimulation studies for diagnosis of genetic disorders like Growth hormone deficiency (GH stimulation test) and glycogen storage disorders (glucose and glucagon stimulation test).

  • Lymphocyte immune therapy: In cases of recurrent abortions where some abnormality is detected in the reproductive immunophenotype, the couples are benefitted by the LIT injections, which improve the pregnancy outcome.

2. Molecular Diagnostic Tests:

The MOLECULAR GENETIC SECTION provides DNA diagnosis of various disorders such as thalassemias (alpha, beta and gamma genes), muscular dystrophies, spinal muscle atrophy, myotonic dystrophy, hemophilia A and B and cystic fibrosis. It is one of the few centers in the world carrying out molecular studies and prenatal diagnosis of albinism, deafness, mitochondrial disorders, ataxia telengiectasia, achondroplasia, Wilson disease, Apert syndrome and Merosin deficiency congenital muscular dystrophy (linkage). This section has provided molecular diagnosis to over 4500 patients.

For cases of infertility the department offers a complete workup using chromosomal studies, DNA technology to test for Y chromosome deletions, and androgen receptor gene, as well as tests for congenital absence of vas deferens.

Molecular section also performs studies on Thrombophilias (Profile includes Prothrombin gene study, MTHFR polymorphism and Factor V leiden) in cases of recurrent abortions, strokes and other prothrombotic conditions. Apo E gene studies are offered here for Alzheimers and cardiovascular diseases. Gene studies are being set up for mutation screening in familial Parkinson's disease. We have developed

List of disorders for which DNA tests are available are (alphabetically arranged):
  • Albinism-mutation analysis & prenatal diagnosis
  • Alpha 1 Anti-Trypsin - (Z,S and M Mutations)
  • Alpha Thalassemia- deletions (3.7 and 4.2 kb) & prenatal diagnosis
  • Angelman syndrome - methylation test
  • Apert syndrome
  • Apo E genotyping - Alzheimers disease, Cardiovascular disease
  • Ataxia telengiectasia-carrier screening and prenatal diagnosis by linkage
  • Beta Thalassemia - Mutations studies & prenatal diagnosis
  • Ceroid lipo fucinosis (Juvenile) CLF, Battens disease
  • Congenital absence of vas deferens-4 mutations of CF gene, including 5T (CABVD)
  • Congenital adrenal hyperplasia: Mutation analysis of common mutations. Prenatal diagnosis by linkage or Mutation analysis
  • Congenital muscular dystrophy (Merosin deficiency) -prenatal diagnosis by linkage
  • Cystic fibrosis: Diagnosis of four Indian mutations
  • Deafness-5 Indian connexin 26 gene mutations.
  • Duchenne Muscular Dystrophy- Deletion testing, Prenatal Diagnosis/ Carrier test
  • Folate Polymorphism 35 MTHFR enzyme, (homocysteinemia, NTDs)
  • Factor V Leiden
  • Fragile X screen (PCR), confermation by Methylation Test
  • Friedreich's Ataxia NEW!
  • Hemoglobin D Punjab
  • Hemoglobin D Iran
  • Hemoglobin E
  • Hemoglobin Q India
  • Hemoglobin S
  • Hemophilia A- Carrier detection / Prenatal diagnosis
  • Hemophilia B- Carrier detection / Prenatal Diagnosis
  • HLA B-27
  • Huntington disease

  • Infections ( blood / amniotic fluid)

    • Cytomegalovirus

    • EB Virus

    • Herpes Virus

    • Parvo virus

    • Rubella

    • Toxoplasmosis

    • Varicella (Chicken pox) NEW!

  • Leukemias: CML, AML & ALL common translocations by RT - PCR NEW!

  • MCAD mutation (sudden infant deaths)

  • Megalencephalic leukodystrophy with subcortical cysts (MLC) mutation analysis NEW!

  • MLC prenatal diagnosis NEW!

  • Mitochondrial Disorders

    • Deletion screening- common deletion

    • Lebers Hereditary Optic Atrophy- LHON (3 mutations)

    • LEIGHs - Three mutations

    • MELAS - Three mutations

    • MERRF- Two mutations

    • NARP- Two mutations

  • Myotonic dystrophy (PCR only)
  • Paternity testing by nine polymorphic markers
  • Parkinson's disease - common mutation (NEW!)
  • Prader Willi syndrome - methylation studies (NEW!)
  • Prothrombin common mutation
  • Retinoblastoma (diagnosis by linkage)
  • Spinal muscular atrophy - Diagnosis and Prenatal diagnosis
  • Spinocerebellar ataxias- types 1,2,3, 6 and 12
  • Thalassemia-Mutation analysis DRPLA & Prenatal diagnosis
  • Thrombophilia profile (Factor V leiden, MTHFR, prothrombin gene)
  • Wilson disease- Presymptomatic diagnosis by linkage
  • X- linked ichthyosis, steroid sulfatase deficiency
  • Xmn Polymorphism of gamma-globin gene
  • Y- Chromosome deletions (10)

3. Biochemical Testing Facilities:

THE BIOCHEMICAL SECTION provides an accurate facility for screening of maternal blood during both the first and the second trimester of pregnancy to detect the presence of abnormalities in the unborn child using Victor 2D Fluorometer. It provides testing of cases of mental retardation for aminoacid abnormalities; enzyme assays for mucopolysacharidoses, galactosemia, Tay Sach disease, and neurodegenerative disorders. Comprehensive tests for thrombophilias (Protein C, S, anti-thrombin, homocysteine, factor V Leiden, folic acid enzyme polymorphism, and Prothrombin gene polymorphism) are provided. These tests are also recommended in people who are undertaking air travel for long distances to identify those at high risk of thrombosis.

NEW! Þ Latest in the list of tests performed is quantitative aminoacidogram by HPLC which can be performed on urine/plasma/csf. NBT test for Chronic granulomatous disease. Biotinidase enzyme assay, Leptin levels, Anti mullerian hormone assay.

Prenatal screening for chromosomal disorders by using Victor 2D fluorometric assay - first and second trimester triple test.

Complete list of tests performed is as follows:
  1. Metabolic Tests:
    Aminoacid chromatography     (Plasma/ Urine) - quantitative by HPLC, Qualitative by paper thin layer chromatography
    Chemical metabolic tests     (urine)
    Quantitative aminoacids by HPLC
    Mucopolysacharides- screening/ quantification
    Nitroblue tetrazolium test for Congenital Granulomatous Disease
    Porphyria screening - (urine & stool
  2. Cystic fibrosis tests:
    Cystic fibrosis- trypsin (Filter paper)
    Sweat test including iontophoresis
  3. Enzyme assays (Leukocytes/ Serum):
    Alpha Glucosidase (Pompe's disease) (Acid maltase)
    Aryl Sulphatase A- Metachromatic leucodystrophy

  • Aryl Sulfatase B (MPS type VI)

  • Beta Galactosidase (GMI gangliosidosis)
    •
  • Beta Glucoronidase (MPS VII)
  • Beta Glucosidase (Gaucher disease)
  • Biotinidase enzyme (Multiple carboxylase deficiency)
  • Hexosaminidase A & B (Tay Sachs & Sandhoff)
  • Fucosidase (Fucosidosis)
  • Galactocerebrosidase (Krabbes disease)
  • Galactose 1-phosphate uridyl transferase (GALT for Galactosemia)
  • Gal 1- phosphate epimerase (GALE for Galactosemia)
  • Glycogen content (RBC) (GSD type III) NEW!
  • Iduronidase enzyme (Hurler syndrome)
  • Iduronate-2- sulfatase (Hunter syndrome)
  • Galactose -6- sulfatase (Morquio MPS IV A)
  • Beta Galactosidase (Morquio MPS IV B)
  • Mannosidase (Mannosidosis A & B)
  • Sphingomyelinase (Niemann- Picks disease)
  • Enzyme disorders - Prenatal Diagnosis for all disorders

  1. Gastroenterology & Hepatology:

    • Alpha 1- Anti-trypsin (Serum)

    • Alpha Fetoprotein, AFP (Serum/ amniotic fluid)

    • Antigliadin lgA antibodies, anti-transglutaminase (celia disease)

    • Ceruloplasmin (Serum)

    • Galactosemia (Assay of GALT & epimerase enzyme)

    • Galactosemia (Beutler spot test)

    • Galactosemia (Galactose in blood)

    • Immunoreactive trypsin (infants for cystic fibrosis)

    • Pyruvate kinase deficiency (serum) NEW!

  2.  Growth disorders

    • Growth Hormone (Stimulation test, one time assay)

    • IGF1 (Insulin Growth Factor 1)

    • IGFBP3 (Insulin Growth Factor Binding Protein 3)

      •

  3. Mucopolysacharide disorders:

    • MPS screening on urine

    • MPS quantification

    • Urine MPS electrophoresis*

    • Beta Glucorinidase enzyme (MPS VII)

    • Iduronidase enzyme (Hurler syndrome MPS I)

    • Iduronate sulfatase (Hunter syndrome MPS II)

    • Galactose -6- sulfatase (Morquio MPS IV A)

    • Beta Galactosidase (Morquio MPS IV B)

    • Aryl sulfatase B (MPS type VI)

  4. New born screening for Metabolic disease (Filter paper)

    Aminoacid chromatography*

    • Congenital adrenal hyperplasia (17alpha OH Progesterone)

    • Cystic fibrosis- (Immunoreactive Trypsin)

    • Galactosemia (Galactose and Beutler spot test)

    • Hypothyroidism (TSH)

    • Phenylketonuria- PKU

    • Organic acids- Quantification

    • Mass tandem spectroscopy - about 50 disorders

  5. Pregnancy Screening Tests:

    6.

    • Alpha Fetoprotein , AFP

    • HCG- Beta (2nd trimester)

    • HCG- Free Beta (1st trimester)

    • PAPP A - Pregnancy Associated Plasma Protein

    • Triple test / 2nd trimester:AFP, -HCG, Unconjugated Estriol

    • Triple/1st trimester- PAPP A, free -HCG

    • Unconjugated Estriol (UnEst)

    • Inhibin

    • Amniotic fluid - delta optical density for Rh isoimmunisation

  6. Thrombophilia/ Bleeding profile: 
    7.

    • Protein C levels

    • Protein S levels

    • Von willibrand factor

4. Chromosomal / Cytogenetics:

THE CYTOGENETIC SECTION using computerized image analysis system has studied chromosomes in over 11,800 cases, including blood, bone marrows, amniotic fluid, chorionic villi, skin etc. Bone marrow chromosomes provides prognostic information. This laboratory has carried of out amniotic cell cultures in over 1200 cases, for determining accurately the chromosomes of the fetus, which is especially useful in couples that have a previous abnormal child, or where the mother's age at conception is more than 35 years. Special cytogenetic techniques have been established for diagnosis of Fanconi's anemia and Ataxia telengiectasia.

NEW! Fluorescent in-situ hybridization (FISH) studies for various conditions like chromosomal aneuploidies, leukemias , translocations etc.

Karyotype analysis from blood, bone marrow, cord blood, amniotic fluid, chorionic villi, & skin are available under following headings:

  • Abortus material- (CVS/Products of conception)

  • Amniotic fluid- Chromosomes

  • Ataxia Telangiectasia ( chromosome breakage)

  • Buccal Smear- X and Y chromatin

  • Chorionic villi-(Direct & long term cultures)

  • Blood

  • Bone Marrow

  • Cord blood

  • Fanconi syndrome

  • Fragile X syndrome

  • Recurrent abortions

  • Skin fibroblast culture for other tests

  • Sperms Y- body

  • FISH studies for rapid prenatal diagnosis NEW!

  • FISH studies for chromosomal aneuploidies, translocations and leukemias NEW!

5. Prenatal Diagnostic Facilities:

For prenatal diagnosis, it is absolutely essential that a precise diagnosis is made in the affected child, because of the presence of genetic heterogeneity i.e more than one gene causing same type of clinical picture . This is especially relevant for diagnosis by enzyme assays or DNA techniques.

It is necessary to inform and confirm with the Genetic Unit before sending any samples for prenatal diagnosis.

i. Maternal Serum Screening tests during pregnancy for Down syndrome. Neural tube defects, trisomy 18, and other malformations.

  • First Trimester using PAPP A, Free beta hCG, and Nuchal Thickness (10-14 weeks)

  • Second Trimester screening using AFP, Beta hCG and Inhibin Unconjugated Estriol (15-22 weeks)

ii. Chromosomal Disorders by * Amniotic cell culture, * Chorionic cillus sampling,

*Cordocentesis

The only center in North India doing amniotic cell cultures locally at an unmatched price.

iii. Diagnosis by Molecular Methods

Beta Thalassemia ,Hb E, Sickle Cell Disease, Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Merosin deficiency CMD, Fragile X Syndrome, Hemophilia A and Cystic Fibrosis, Albinismand Deafness (connexin 26 gene mutations) by DNA studies on parents and chrionic villus samples/ Amniotic fluid cells. Most of the disorders listed under Molecular tests can be diagnosed prenatally.

iv. Biochemical Disorders

Mucopolysaccharidoses, Metachromatic leukodystrophy, Gaucher disease, Tay Sach disease, Niemann Pick disease, Pompe's, Krabbe leukodystrophy and other disorders listed under Biochemical tests. Prenatal diagnosis can be offered in cases of in-born errors of metabolisms where definitive diagnosis has been made in the affected child.

v. Congenital Adrenal Hyperplasia.

Prenatal management Dexamethasone therapy to mother, diagnosis of fetal sex on CVS by DNA techniques at 10-11 weeks , prenatal diagnosis by DNA analytic techniques if mutation analysis done earlier or by linkage studies if an affected child is available , or by 17-OH Progresterone estimation in the amniotic fluid at 15 to 16 weeks of gestation after stopping dexamethasone for 1 week.

Steps in Prenatal Diagnostic of Beta Thalassemia

We have stream-lined the procedure for prenatal diagnosis at Sir Ganga Ram Hospital, New Delhi for the convenience of the patients. We have carried out prenatal diagnosis of thalassemia in about 1000 cases. We follow the following protocol:

  1. For prenatal diagnosis we have to first find change in the beta globin gene of the affected child and the parents. For this purpose the blood of the affected child and the parents have to be analyzed, preferably before the pregnancy. For the affected child, collect the blood either just before the transfusion, or two weeks after the transfusion.

  2. Three ml of blood is collected in tubes containing EDTA solution to prevent clotting of blood (purple top vacutainer tubes e.g. of Beckton Dickson Company or plastic vacuettes made by Greiner). These tubes have a well fitting stopper, which prevents leakage of blood in transit. If the tubes are not available locally, please write to us, and we will send the same to you by courier.

  3. Put the tubes in a plastic box or metal box (like small soap or lunch box) to prevent breakage of tubes during transport. Dispatch this by courier to reach us within 48 hours. Use a reliable courier company. No refrigeration during transport is required.

  4. Once the pregnancy is confirmed contact the Department and inform date of L.M.P. (last menstrual period). We will calculate and tell you the date on which the chorionic villus sampling (CVS) will be done.

  5. The CVS is done under ultrasound guidance by the obstetrician. It is an outpatient procedure, and admission in hospital is not required. It is preferable to stay overnight in Delhi after the procedure. In case you cannot do so, you may travel back to your place in the evening. Two days rest at home is required after the procedure.

  6. On the appointed day, the patient should come to the Genetics Department at 10:30 AM. The patient does not need to fast and can have breakfast. The entire procedure will be completed by 2.00 pm.

  7. The report will be ready in 5-6 days time in most cases, if the gene mutations are known, otherwise it will take 1-2 weeks.

6. HLA Typing

The HLA LABORATORY provides typing for cases undergoing transplantation, using the internationally accepted fluorescence-based method. It has facilities for HLA typing by DNA technology required for bone marrow transplantation. Keeping in mind the new regulation from Govt of India regarding organ transplants allowing only blood relatives to donate organs, we also confirm the relationship between patient and donor of organ by Y chromosome tracking in males and X chromosome and mitochondrial markers in females by DNA techniques.

Following tests are performed on regular basis:

  • HLA - ABC typing by serology using fluorescence methodology

  • HLA - DR & DQ typing by serology using fluorescence method

  • HLA - AB typing by DNA methods

  • HLA - DR, DQ typing by DNA methods

  • HLA- DQ alpha typing by DNA SSOP methods NEW!

  • PRA testing

  • Cross-matching using fluorescence method

  • HLA - B27 by DNA technique

  • Paternal relationship testing (Y chromosome markers)

  • Maternal relationship testing (X chromosome and mitochondrial markers)

    •

7. Immunohistochemical studies on muscle:

Specialised studies are offered for patients of muscular dystrophies and other neuromuscular disorders. The test requires fresh frozen sections of muscle for immediate processing inorder to get accurate results. Western blot analysis for muscular dystrophies including Calpainopathy is also being standardised and will be available shortly for diagnostic purpose.

  • Dystrophin (N terminus, rod domain and C terminus antibodies)

  • Sarcoglycan alpha

  • Sarcoglycan beta

  • Sarcoglycan delta

  • Sarcoglycan gamma

  • Dystroglycan beta

  • Merosin

  • Dysferlin NEW!

  • Myotilin NEW!

  • Emerin NEW!

  • Spectrin (as control)

Western blot is being standardized for all above and Calpainopathies.

8. New tests:

We are constantly establishing new tests. If you do not find a particular test you are looking for, please contact us for the latest information. We may have set it up, or can arrange it to be done at a concessional rate by one of our collaborating centers in the world.

9. Genetic Studies in Severely Sick/ Genetic Autopsy:

Collect blood from heart in heparin (2ml for chromosomal studies) and EDTA tube (3ml for DNA studies and plasma studies).

Urine for aminoacids and organic acids.

Cerebrospinal fluid or aqueous humour.

If blood is not available, then obtain a skin biospy (3-5 mm diameter) from abdomen, after cleaning with alcohol/spirit. A part of dermis must be included. Avoid subcutaneous fat. Put in culture medium. If this is not available keep in glucose saline with anti-biotics.

In case of fetal demise, placenta / chorionic villi are also to be collected in either sterile culture medium or sterile glucose saline with antibiotics and sent to laboratory as early as possible. Donot freeze the sample.

For fetal autopsy, preservation of fetus in 10% formalin is recommended before transportation to laboratory.

10. Collection of Samples:

Abortus material or Skin biospy: Collect in sterile culture medium. If this is not available, sterile glucose saline may be used Add antibiotic 2 drops of crystalline penicillin and gentamycin). Do not put tissue in formalin.

Blood

  1. DNA studies : EDTA blood-4 ml child : 8 ml adult

  2. Chromosomes: 3 ml in heparin (not lithium) vial

  3. Leukocyte enzyme assays : 8 ml in EDTA (except for galactosemia)

  4. Galactosemia tests : 2 ml in heparin only

  5. MS- AFP, hCG, ceruloplasmin: 3ml in plain vial.

  6. For Triple marker tests weight, date of LMP (preferably by ultrasound)& date of birth required.

  7. Aminoacids: 3 ml in heparin tube
  8. Hematology tests : 5 ml in EDTA tube

Amniotic fluid cells: 20-ml fluid. Avoid first few ml if blood stained. Sterile tubes and instructions can be obtained from our Genetic Lab.

Chorionic villi sample: about 20 mg for chromosomal and molecular tests. For biochemical tests about 30 mg of CVS are required. Sterile media in Universal vials must be obtained from the lab.

Urine
Aminoacids, MPS or oligosaccharide screening: 15 ml first morning specimen. Remember a consent form is required with all samples. This is given at the end of this section.

11. Special Instructions for Sample Collection and Dispatch:

i. For chromosomal studies of blood or amniotic fluid cells or chroionic villus samples use absolute aseptic precautions. Clean skin with 70% methanol or spirit, flame the top of the bottle or clean the rubber stopper. Mix the blood well to avoid clotting.

ii. Before adding blood into a tube make sure it is the right type of tube, with right type of anti-coagulant. Mix the blood well.

iii. If serum is required collect the blood in plain vial, let blood clot, spin and separate the serum.

iv. Keep the samples in a refrigerator (lower compartment), but do not freeze.

v. Despatch the sample by courier, so that they reach the laboratory within 48 hours of collection. No refrigeration is required.

vi. Use Vacutainers as they do not leak. Use plastic tubes if available. Keep the tubes in plastic box to avoid breakage. No refrigeration is required during shipping except in summer, or when delay is expected.

vii. Consent form must be filled.

Diagnosis by DNA techniques is often achieved by linkage analysis . This requires blood of affected subject. It is important that blood/ DNA of the affected child should be stored/banked so that it is available when required. Our laboratory can help in extraction and storage of DNA.

For any clarification you may contact staff at Department of Genetic Medicine between 10.00 AM and 5.00 PM.

12. Consent forms and Clinical request forms:

All prenatal and pre- symptomatic testing require a written consent. Therefore, it is essential to enclose a duly signed Consent forms with all above samples reaching the lab. Consent and clinical request forms are available for tests given below.

DNA tests: Consent form; Consent form (PND); Clinical request form
Chromosomal test: Consent form (PND); Clinical request form 
Biochemical tests: Consent form (PND); Clinical request form 
HLA tests: Application form; Clinical request form

Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060, INDIA
Tel: 25735205, 25861463 Fax: 25861002 Email: gangaram@sgrh.com
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