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CLINICAL GENETICS  |  CYTOGENETICS  |  BIOCHEMICAL GENETICS  |  MOLECULAR GENETICS



Biochemical Genetic Services

    Inborn errors of metabolism (IEMs) individually are rare but collectively, common disorders. An understanding of the broad clinical manifestations of IEMs provides the basis for knowing when to consider the diagnosis. Most important in making the diagnosis is a high index of suspicion. Successful emergency treatment depends on prompt institution of therapy aimed at metabolic stabilization. Single gene defects result in abnormalities in the synthesis or catabolism of proteins, carbohydrates or fats. Most of them are due to defect in an enzyme or transport protein, which results in block in the metabolic pathway. Effects are due to toxic accumulations of substrates before the block, intermediates from alternative metabolic pathways, and/or defects in energy production and utilization caused by a deficiency of products beyond the block. Nearly every metabolic disease has several forms that vary in age of onset, clinical severity and, mode of inheritance. Cases with developmental delay, onset of symptoms with change in diet and unusual dietary preferences, particularly protein or carbohydrate aversion, unexplained neonatal or sudden infant deaths in the family, seizures, failures to thrive, hepatosplenomegaly can be screened for metabolic defects.


List of investigations done and Sample required

Serial NoCodeTestSample Required
Screening Tests
1SCR1Metabolic screening with TLC aminoacids10 ml Urine
2SCR2Thin layer chromatography (TLC) for amino acids(Plasma/urine/CSF)
3SCR3Thin layer chromatography for oligosaccharides10 ml Urine
4SCR4Thin layer chromatography for carbohydrates10 ml Urine
5SCR5Paper chromatography for Homogenestic acid/ Alkaptonuria10ml Urine
6NBS1Expanded Newborn screening (TSH,17-OHP, Biotinidase, Immunoreactive Trypsinogen, G6PD, Galactose, GALT)Blood spot on S&S filter paper
Amino Acid Disorders
7HP1HPLC for amino acids 3 ml EDTA Blood
8HP2HPLC for sulphur amino acids (Homocysteine and others)3 ml EDTA Blood
Mucoploysaccharidosis
9MPS1Qualitative and quantitative analysis of urine for MPS24 hours Urine
10MPS2Mucopolysaccharidosis24 hours Urine
11MPS3Hurler syndrome - MPS I (Iduronidase)3 ml EDTA Blood
12MPS4Hunter syndrome - MPS II (Iduronate 2-sufatase3 ml EDTA Blood
13MPS5Sanfillipo disease-MPS III A -alpha-hexosaminidase (alpha-N acetyl glucosaminidase)3 ml EDTA Blood
14MPS6Sanfillipo disease-MPS III B-alpha-hexosaminidase (alpha-N acetyl glucosaminidase)3 ml EDTA Blood
15MPS7Sanfillipo disease-MPS III D-alpha-hexosaminidase (alpha-N acetyl glucosaminide 6 - sulfate)3 ml EDTA Blood
16MPS8Morquio Syndrome Type A- MPS IV A (galactose 6-sufatase)3 ml EDTA Blood
17MPS9Morquio Syndrome Type B- MPS IV B (Beta galactosidase)3 ml EDTA Blood
18MPS10Maroteaux-Lamy syndrome MPS VI (Aryl sulphatase B) 3 ml EDTA Blood
19MPS11Sly disease MPS VII (Beta-glucuronidase)3 ml EDTA Blood
20MPS12Prenatal Diagnosis (Enzyme assay)Chorionic Villi (30mg)/15-20 ml Amniotic fluid
Lysosomal Storage Disorders
21LYS1Fabry disease (Alpha-Galactosidase)3 ml EDTA Blood
22LYS2GM1 Gangliosidosis (Beta Galactosidase)3 ml EDTA Blood
23LYS3Pompe's (Alpha-Glucosidase) 3 ml EDTA Blood
24LYS4Gaucher disease (Beta-Glucosidase) 3 ml EDTA Blood
25LYS5Tay Sachs (Hexosaminidase A)3 ml EDTA Blood
26LYS6Sandhoff (Hexosaminidase A and B) 3 ml EDTA Blood
27LYS7Metachromatic Leukodystrophy (Aryl sulphatase A) 3 ml EDTA Blood
28LYS8Alpha-Mannosidosis type I/II (Alpha Mannosidase)3 ml EDTA Blood
29LYS9Neuronal ceroid Lipofuschinosis Type 1 3 ml EDTA Blood
30LYS10Krabbe disease (Galactocerebrosidase)3 ml EDTA Blood
31LYS11Schindler disease3 ml EDTA Blood
32LYS12Niemann Pick disease A and B (Spingomyelinase)3 ml EDTA Blood
33LYS13Sialidosis (Neuraminidase)3 ml EDTA Blood
34LYS14Fucosidosis (Fucosidase)3 ml EDTA Blood
35LYS15Prenatal Diagnosis (Enzyme assay)3 ml EDTA Blood
Prenatal Screening
36PRE11st trimester screening (PAPP-A, Fr/b-HCG)3 ml EDTA Blood
37PRE22nd Trimester screening (AFP, Free bHCG, Estriol)3 ml EDTA Blood

KINDLY CONTACT THE LABORATORY BEFORE SENDING ANY SAMPLE FOR GENETIC TESTING

Note: Chorionic villi should be preferably sent in tissue culture media (culture media is supplied on demand. Fetal tissue sampling should be done under sterile conditions and samples should be transported in sterile tissue culture media.

Download List of investigations and Pricelist

Dr. Ashwin Dalal
Research
Diagnostics group
Services

CONTACT INFORMATION

Email : 
Phone : 
Fax     :
adalal@cdfd.org.in
+91-40-27151344-46-47-48 extn.1115
+91-40-27155610
Last updated on : Thursday, 15th June, 2006.