List of Investigations

New investigation:

• Plasma Chitotriosidase: For monitoring therapy in Gauchers disease and also for diagnosis of Gaucher, Fucosidosis as an additional investigation.
  Cost Rs. 2000/
  
  
• Niemann Pick type C: Fibroblast study for lipid storage.
  Cost Rs. 5000/
  
  
• Microdeletion syndrome: DeGeorge and PraderVilli study by FISH.
  Cost Rs. 3000/
  
  
• COMET ASSAY.
  For Genotoxicity study.
  you can send inquiry
  
  
• SCE study: For Genetoxicity study.
  you can send inquiry
  

Cytogenetic Study

	Test
1	Blood Lymphocyte Culture
2	Abortus Chromosome Study
3	Bone Marrow for Cancer Genetics
4	Chorionic Villus Study
5	Amniotic Fluid Culture
6	Skin Fibroblast
7	Fragile-X Study
8	Chromosome breakage syndrome
9	Cord Blood Prenatal
10	Cord Blood Abortus

Biochemical Study

	Investigations
1	Urine For Metabolic D/O With Paper Chromatography
2	Urine For MPS Study (Gag Quantitation)
3	TLC for Sugar
4	Leukocytes Enzymes for lysosomal Storage (all):13 Enzymes        (14 enzymes)

Investigations For Lysosomal Enzymes

	Test	Clinical diagnosis
a	Beta Galactosidase	MPS IV
b	Alpha Galactosidase	Fabry's disease
c	Arylsulfatase-A	MLD
d	Arylsulfatase-Beta	MPS VI
e	Beta Glucosidase	Gaucher's disease
f	Alpha Glucosidase	Pompe's Disease; Glycogen Storage-Type II
g	Beta Glucuronidase	MPS VII (SLY Syndrome)
h	Alpha Mannosidase	MPS like features
i	Hexoaminidase Total	Sandhoff's disease
j	Hexoaminidase A	Tay-Sach's disease
k	Sphingomyelinase	Niemen-Pick disease
l	Iduronidase	MPS-l
m	Fucosidase	Fucosidosis
n	N-Acetyl-Alpha-D-Glucosaminidase	MPS III  (Sanfilipp B)
o	Fillipin stain of Fibroblast	NimenPick Type C
p	Sialic Acid (Free and total)	Sialiacidosis

.

	Test
5	Galactose-Ehydrogenase (Galactosemia)
6	Lactate/Pyruvate/Amonia(For Pyru. Decarboxylase Deficiency Type A&B,Mitochondrial Dis.
7	Triple Marker Screening For Downs Syndrome,Trisomy Of 13,18&21,Afp,Hcg & Estriol
8	First Trimester Screening by PAPA & HCG
9	Only Afp  (Ntd's)
10	Ceruloplasmin (Wilson Di.Sease)
11	Prenatal Diagnosis Of Lysosomal Storage Disorder From CVS & Amniotic Fluid

Molecular Genetics

	Test
1	Beta-THALASSAEMIA-Mutation Analysis
2	Duchenne Muscular Distrophy
3	Spinal Muscular Atrophy
4	Hemophilia   A & B
5	RETT Mutation For MECP2 Gene
6	Non Syndromic Hearing Loss Deafness GJB-2 mutation
7	Oculocutaneous Albinism    Fgfr-3 For Achondroplasia
7	‘Y' Deletion Study
8	Fragile-X By CGG Repeat
9	Spinocerebrellar Ataxia
10	Cystic Fibrosis By D508 Mutation
11	Myotonic Dystrophy
12	MTHFR  - Gene Mutation  C677T
13	Paternity Test

Molecular Cytogenetics:

We Have Availability Of Following Fish Probes Studies :

	Test
1	BCR/ABL TRANSLOCATION Dual colour dual fusion
2	CEP. 8
3	DiGeorge syndrome
4	XX/XY ratio:for sex mismatched bone marrow transplant
5	WCP-21
6	Multivision Probe for Trisomy 13,21 X&Y

Prenatal Diagnosis :

	Test
1	Beta-Thalassemia From CVS (Includes Two Parent)
2	Beta-Thalassemia From Amniotic Fluid (Includes Two Parent)
3	DMD  with  known deletion
4	Hemophilia   A&B
5	Fragile-X By Cytogenetics  & CGG       Repeat
6	Autosomal Recessive Lamellar Icthyosis
7	SMA
8	Connexin Gene – Gjb2
9	OCA – 1 Common Indian Mutation

Miscellaneous:

1	DNA Isolation & Storage

* Please note that in all prenatal single gene disorders, index case diagnosis by molecular study is needed.