.

LPL - LPL-ROHINI (NATIONAL REFERENCE

LAB)
SECTOR - 18, BLOCK -E ROHINI
DELHI 110085

Name : DUMMY G126 Collected : 21/8/2020 2:12:00PM

Received : 21/8/2020 2:31:46PM
Lab No. : 152800273 Age: 55 Years Gender: Male Reported : 22/8/2020 1:48:53PM
A/c Status : P Ref By : UNKNOWN Report Status :

Test Name Results Units Bio. Ref. Interval

s
NIEMANN PICK DISEASE, QUANTITATIVE, BLOOD
(Enzyme Assay)
Patient Value nmol/hr/mg >3.00

ab
Control Value nmol/hr/mg

Interpretation
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| SPHINGOMYELINASE ACTIVITY | REMARKS |
|----------------------------|-------------------------------------|
| >3 | Normal activity
th |
|----------------------------|-------------------------------------|
| 1.5-3 | Possibility of carrier state likely|
|----------------------------|-------------------------------------|
| <1.5 | Deficient activity |
------------------------------------------------------------------
Pa
Note
1. Results should be clinically correlated as individual / biological variations can affect the
test results
2. Genetic counseling available with prior appointment at Department of Genetics,
National Reference Lab, New Delhi
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Comments
Niemann Pick disease (Types A & B) is a lysosomal storage disease caused by deficiency of enzyme
Sphingomyelinase. It is inherited as an autosomal recessive disorder.
rL

Type A disease is characterized by jaundice, progressive loss of motor skills, feeding and learning difficulties
and hepatosplenomegaly. It usually presents within 1-4 months of age and death occurs by 3 years.
Type B disease is milder though variable in clinical presentation. Most of these patients do not have
neurological involvement and survive upto adulthood.
Type C disease is a lysosomal lipid storage disease presenting usually in middle to late childhood. It is
D

characterized by vertical gaze palsy, ataxia, dystonia, behavioural problems and dementia.

PatientReportSCSuperPanel.GENERAL_PANEL_ANALYTE_SC (Version: 6)

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*152800273*
.

LPL - LPL-ROHINI (NATIONAL REFERENCE

LAB)
SECTOR - 18, BLOCK -E ROHINI
DELHI 110085

Name : DUMMY G126 Collected : 21/8/2020 2:12:00PM

Received : 21/8/2020 2:31:46PM
Lab No. : 152800273 Age: 55 Years Gender: Male Reported : 22/8/2020 1:48:53PM
A/c Status : P Ref By : UNKNOWN Report Status :

Test Name Results Units Bio. Ref. Interval

s
ab
Dr Himangshu Mazumdar Dr.Kamal Modi Dr Nimmi Kansal
MD, Biochemistry MD, Biochemistry MD, Biochemistry
Senior Consultant - Clinical Chemistry Consultant Biochemist National Head - Clinical Chemistry &
& Biochemical Genetics NRL - Dr Lal PathLabs Ltd Biochemical Genetics
NRL - Dr Lal PathLabs Ltd NRL - Dr Lal PathLabs Ltd

L
Result/s to follow:
NIEMANN PICK DISEASE, QUANTITATIVE, BLOOD
th IMPORTANT INSTRUCTIONS

*Test results released pertain to the specimen submitted .*All test results are dependent on the quality of the sample received by the Laboratory .
Pa
*Laboratory investigations are only a tool to facilitate in arriving at a diagnosis and should be clinically correlated by the Referring Physician .*Sample
repeats are accepted on request of Referring Physician within 7 days post reporting.*Report delivery may be delayed due to unforeseen
circumstances. Inconvenience is regretted.*Certain tests may require further testing at additional cost for derivation of exact value. Kindly submit
request within 72 hours post reporting.*Test results may show interlaboratory variations .*The Courts/Forum at Delhi shall have exclusive
jurisdiction in all disputes/claims concerning the test(s) & or results of test(s).*Test results are not valid for medico legal purposes. * Contact
customer care Tel No. +91-11-39885050 for all queries related to test results.
(#) Sample drawn from outside source.
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rL
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*152800273*