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Lysosomal Storage Disorders

Indications

  • Dysmorphic features
  • Failure to thrive
  • Regression of learned skills
  • Corneal clouding / Cherry red spot / Ophthalmological disorders
  • Hepatosplenomegaly / gastro-intestinal problems
  • Hearing loss
  • Neuroregression
  • Skeletal dysplasia
  • Respiratory distress with muscular myopathy and cardiomegaly
  • Seizures / Dementia

Investigation List


NO.

LYSOSOMA ENZYME AND DISORDER

Sample Type

Collection

Turn Around Time

 

 

 

 

 

1

I-cell Screening in plasma

Plasma

K3 EDTA Plasma (2 ml)

2 days

2

I-cell study in plasma (Aryl-A, Hex-T, β-glucuronidase and a-mannosidase

Plasma

K3 EDTA Plasma (2 ml)

1 week

3

Plasma Chitotriosidase for screening of LSDs

Plasma

K3 EDTA Plasma (2 ml)

2 days

 

MUCOPOLYSACCHARIDOSIS

4

alpha-iduronidase

(Hurler Syndrome, MPS I)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

5

alpha-iduronate Sulphate 

(Hunter Syndrome- MPS II)

Peripheral Blood

K3 EDTA vaccute (5 ml)

2 weeks

6

Plasma N- Acetyl- a- D- Glucosaminidase     

(Sanfilippo Tyhpe B, MPS IIIB)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

7

N-Sulpho-D-Glucosaminidase

(Sanfilippo type A, MPS IIIA)

Peripheral Blood

K3 EDTA vaccute (5 ml)

2 weeks

8

β-galactosidase-6-Sulphate-Sulphatase 

(Morquio Syndrome, MPS IVA)

Peripheral Blood

K3 EDTA vaccute (5 ml)

2 weeks

9

β-galactosidase

(Morquio Syndrome, MPS IVB & GM1 Gangliosidosis)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

10

Arylsulfatase B

(Martoteaux- Lamy Syndrome, MPS VI)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

11

β-glucuronidase              
(Sly Syndrome, MPS VII)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

12

Enzyme study for MPS includes all enzymes for MPS except III C AND III D

Peripheral Blood

K3 EDTA vaccute (5 ml)

2 weeks

 

GLYCOPROTEIN DEGRADATION

13

alpha-fucosidase       
(Fucosidosis)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

14

alpha-mannosidase           
(Mannosidosis)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

 

GLYCOLIPIDS AND LIPIDS

15

β-hexosaminidase (Total)     
(GM2 Gangliosidosis, Sandhoff disease)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

16

β-hexosaminidase (A)

(GM2 Gangliosidosis, Tay Sach disease) 

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

17

Sphingomyelinase   

(Niemann Pick Disease A & B)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

18

β-glucosidase (Gaucher's Disease)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

 

SULPHATIDES

19

Arylsulfatase A

(Metachromatic Leucodystrophy, MLD)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

20

β-galactocerebrosidase

(Krabbe Disease)

Peripheral Blood

K3 EDTA vaccute (5 ml)

2 weeks

 

GLYCOGEN STORAGE

21

alpha- 1,4 glucosidase          

(Infantile Cardiomyopathy)   
(Pompe disease, GSD  type II)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

22

Debrancher Enzyme

(Cori disease, GSD Type III)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

23

Total Glycogen in RBC

Peripheral Blood

K3 EDTA vaccute (5 ml)

2 weeks

 

GLOBOTRIAOSYLCERAMIDE

24

alpha-galactosidase (Angiokeratoma)        
(Fabry's Disease)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

25

Sialic Acid (Total & Free)    
(Sialic Acid Storage isorder)

Urine

Urine in sterile container (15 ml)

6 days

26

Palmitoyl protein thioesterase (PPT)
(NCL1 for Batten Disease)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

27

Tripeptidyl Peptidase 1 (TPP1)
(NCL2 for Batten Disease)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

 

CHOLESTEROL ESTER STORAGE DISORDER

28

Acid Lipase (Acid Esterase)
(Wolman disease)

Peripheral Blood

K3 EDTA vaccute (5 ml)

1 week

29

Fibroblast study for

Niemann-Pick -C

Skin tissue of skin fibroblasts

Skin tissue: container with normal saline (20 mg)

4 weeks

30

Prenatal Diagnosis of known LSDs

Amniotic Fluid, Chorionic Villus

AF: Sterile container (20ml)

CV: Sterile container with transport medium (30 mg)

4 weeks

31

Prenatal Diagnosis of unknown LSDs

Amniotic Fluid, Chorionic Villus

AF: Sterile container (20ml)

CV: Sterile container with transport medium (30 mg)

4 weeks

32

Neurodegenerative panel
(Aryl-A,
a-mannosidase, Hex-T, Hex-A, a-fucosidase, β-glucuronidase, I-cell screen, Chitotriosidase)

Plasma + Peripheral Blood

K3 EDTA vaccute (5 ml)

2 weeks

33

Cherry red spot and Neuroregression panel
(Hex-T, Hex-A, Sialic Acid, β-glucosidase, Sphingomyelinase, β-galactosidase)

Plasma + Urine + Peripheral Blood

EDTA Plasma (2 ml) + Urine in sterile container (15 ml) K3 EDTA Vaccute (5 ml)

2 weeks

34

Liver and Spleen panel
(β-glucosidase, Sphingomyelinase, β-galactosidase,
a-fucosidase, a-mannosidase, I-cell screening,  β-glucuronidase, Chitotriosidase)

Plasma +  Peripheral Blood

EDTA Plasma (2 ml) + K3 EDTA Vaccute (5 ml)

2 weeks

35

Mucopolysaccharide enzyme panel
(
alpha-paran sulphamidase, N-Ac-a-glucosaminidase, β-galactosidase-6-sulphate sulphatase, β-galactosidase, Aryl-B, β-glucuronidase)

Plasma + Urine +   Peripheral Blood

EDTA Plasma (2 ml) + K3 EDTA Vaccute (5 ml)

2 weeks

36

Fetal hydrops panel prenatal study (AF or CVS)
(
alpha-iduronidase, β-galactosidase, β-galactose-6-sulphate sulphatase, I-cell by direct screen in AF, β-glucosidase, Acid Esterase, Hex-A and T, sphingomyelinase and N-Neuraminidase)

Amniotic Fluid, Chorionic Villus

AF: Sterile container (20ml)

CV: Sterile container with transport medium (30 mg)

4 weeks

37

I-cell prenatal Study (AF or CVS)
I-cell screen in amniotic fluid, β-glucuronidase, Hex- T

Amniotic Fluid, Chorionic Villus

AF: Sterile container (20ml)

CV: Sterile container with transport medium (30 mg)

4 weeks

38

LSD Panel in POC hydrops

POC

POC material in sterile container in normal saline

4 weeks