Dear Clinicians, We are happy to launch our first edition of quarterly newsletter bringing to your exotic clinical cases with unusual symptoms and/or diagnostic findings, or cases involving rare diseases. We will also share with you our recent achievements, the future roadmap and new test launches in the field of rare disorder diagnosis. We hope that you will find this information quite valuable as it may assist you to derive even better patient management. Thanks for reading! Team Sandor

1. Issue 1, December 2015
Sandor Lifesciences Pvt. Ltd. 8-2-326/5, Plot No. 1, Road No. 3, Banjara Hills, Hyderabad - 500 034, Telangana, India
CIN: U85110TG2004PTC043672
Page 1
New Tests Now Available
1. Newborn Screening
2. Vitamins
3. Lactate & Pyruvate
4. Pterins
Tests Coming Soon
1. LSD’s screening
2. Non-invasive prenatal testing (NIPT)
Dear Clinicians,
We are happy to launch our first edition of quarterly
newsletter bringing to your exotic clinical cases with
unusual symptoms and/or diagnostic findings, or
cases involving rare diseases. We will also share with
you our recent achievements, the future roadmap
and new test launches in the field of rare disorder
diagnosis. We hope that you will find this information
quite valuable as it may assist you to derive even
better patient management.
Thanks for reading!
Team Sandor
In This Issue
1. Wolman Disease
2. Lysinuric Protein Intolerance (LPI)
3. Molecular Diagnostics of Infectious Disease
Consultant Geneticist & Lab Chief
Dr. Jayanthi Undamatla
jayanthi@sandor.co.in, +91 83310 11704
Consultant Biochemist
Dr. Maheshwar Reddy
mahesh@sandor.co.in, +91 83319 30016
Principal Scientist Flow Cytometry
Dr. Nagesh Narayan Pandey
nagesh@sandor.co.in, +91 83329 59992
Consultant Molecular Diagnostics
Dr. Raghuram
raghu@sandor.co.in, +91 94406 97547

2. Issue 1, December 2015
Sandor Lifesciences Pvt. Ltd. 8-2-326/5, Plot No. 1, Road No. 3, Banjara Hills, Hyderabad - 500 034, Telangana, India
CIN: U85110TG2004PTC043672
Page 2
Case 1: Wolman disease (OMIM No: 278000)
A two months male child with acid lipase enzyme activity deficiency
Clinical presentation: The child presented with clinical suspicion of Wolman disease with hepatosplenomegaly,
calcified adrenal glands, diarrhea and failure to thrive.
Laboratory work up: Acid lipase enzyme activity was found to be deficient (~ 2.1% of mean normal) in leukocytes.
In view of the age of onset and clinical presentation the diagnosis was consistent with Wolman disease.
About the disorder: Both Wolman disease and Cholesteryl ester storage disease are rare autosomal recessive
lysosomal storage disorders caused by a deficient activity of lysosomal acid lipase, the differentiating factor being
the age of onset and clinical presentation. Wolman disease is the early onset form and develops during the first
few weeks or month of life and presents with hepatomegaly, liver disease, adrenal gland calcification, vomiting,
diarrhea, and failure to thrive. The late onset form which is known as Cholesteryl ester storage disease (CESD)
typically presents later in childhood or even adulthood and presents with hepatosplenomegaly, coronary artery
disease, stroke, altered liver function, jaundice, steatosis, fibrosis, cirrhosis and related complications of
esophageal varices, and/or liver failure, anemia and/or thrombocytopenia. Residual enzyme activity of ≤5% of
mean normal is obtained in Wolman disease and 2% - 11% of mean normal is observed in Cholesterol ester storage
disease (CESD).
Prevalence: Wolman disease is estimated to occur in 1 in 100,000 newborns and CESD is 1 in 1, 30,000 live births.
Differentials: Owing to its similarity with other cardiovascular, liver and metabolic diseases, the differential
diagnosis of these disorders can be challenging. The differential diagnosis includes:
Niemann-Pick disease, Types A/B
Gaucher disease
Familial hypercholesterolemia
Chanarin dorfman syndrome
Copyrights:
http://ommbid.mhmedical.com/data/Books/ommbid/ch142fg2.jpg
http://pmj.bmj.com/content/78/923/567/F2.large.jpg

3. Issue 1, December 2015
Sandor Lifesciences Pvt. Ltd. 8-2-326/5, Plot No. 1, Road No. 3, Banjara Hills, Hyderabad - 500 034, Telangana, India
CIN: U85110TG2004PTC043672
Page 3
Case 2: Lysinuric Protein Intolerance (LPI) (OMIM No: 222700)
A two years eleven months male child born from a consanguineous marriage presented with hyper ammonia
Clinical presentation: The child presented with an eight month history of daily episodic irritability lasting for up to
twelve hours associated slow congitive regression. The child was being treated for epilepsy with multiple
anticonvulsants without any improvement. His EEG was normal and MRI had shown symmetrical periventricular T2
hyperintensities. On clinical Examination he was pale, ataxic and had mild hepatosplenomegaly.
Prior work up: His serum Ammonia was significantly raised at 840 micromol/l as were plasma ferritin with mild
derangment of liver function. Clinically urea cycle disorder was suspected.
Diagnostic workup: The patient was referred for metabolic work up including urine organic acid analysis, urine &
plasma amino acid analysis. Urine organic acid analysis revealed a 689-fold elevation of orotic acid and 6-fold
elevation of uracil. Plasma amino acid analysis revealed an elevation of alanine, low level of lysine, absence of
ornithine but arginine was within normal limits. Urine amino acid analysis revealed increase in multiple amino acids
including glutamic acid, glutamine, α-amino adipic acid, citrulline, amino butyric acid, cystine, methionine,
phenylalanine, lysine, and arginine, but ornithine was within normal limits.
Treatment: The child showed dramatic improvement in his symptomatology after starting anitscavanging therapy
(Sodium benzoate and Citrulline) and protein restricted diet.
About the disorder: Lysinuric protein intolerance is an autosomal recessive disorder caused by defective cationic
amino acid (CAA) transport at the basolateral membrane of epithelial cells in kidney and intestine. Clinical
symptoms are presented at infancy after weaning from being breast-fed and include hepatomegaly, pancreatitis,
splenomegaly, nausea, vomiting diarrhea, and aversion to protein rich food, impaired intestinal absorption of
cationic amino acids, chronic renal disease, and impaired renal absorption of CAA, mental retardation, postprandial
hyperammonemia, anemia, leucopenia and thrombocytopenia. The patients look as if they have protein deficiency
or malnutrition, loose skin, hypotonia, muscle weakness, interstitial changes on chest x-ray, respiratory
insufficiency and pulmonary hemorrhage.
The phenotypic variability of lysinuric protein intolerance (LPI) has resulted in various differentials.
Differentials
Urea Cycle disorders
Malnutrition/ malabsorptive diseases
Lysosomal storage diseases (LSDs)
Hemophagocytic lymphohistiocytosis/macrophagic activation syndrome
Autoimmune disorders

4. Issue 1, December 2015
Sandor Lifesciences Pvt. Ltd. 8-2-326/5, Plot No. 1, Road No. 3, Banjara Hills, Hyderabad - 500 034, Telangana, India
CIN: U85110TG2004PTC043672
Page 4
Urine Amino acid Chromatogram
25.0 50.0 75.0 100.0 125.0 min
0
100
200
300
400
500
600
700
800
900
1000
mV
Detector A:Ex:350nm,Em:450nm
P-Ser
Tau
Asp
Thr
Ser
Asn
Glu
aAAA
Gly
Ala
Cit
aABA
Val
Cys
Met
Ile
Leu
Tyr
Phe
b-AlabAIBA
GABA
Trp
His1-Me-His
3-Me-His
Car
Ans
Orn
Lys
NH3+Ethanolamine
Arg
Urine Organic acid chromatogram
5.0 10.0 15.0 20.0 25.0 30.0 35.0 40.0
0.00
0.25
0.50
0.75
1.00
1.25
1.50
(x10,000,000)
TIC
Oxalicacid-2TMS
Malonicacid-2TMS
Succinicacid-2TMS
Uracil-2TMS
Tropicacid(IS)
2-Ketoglutaricacid-oxime-3TMS
Oroticacid-3TMS
Hippuricacid-TMS
Citricacid-4TMS
PalmiticacidTMS
Margaricacid-TMS(IS)
Tetracosane(IS)
Plasma Amino acid Chromatogram
25.0 50.0 75.0 100.0 125.0 min
0
100
200
300
400
500
600
700
800
900
1000
mV
Detector A:Ex:350nm,Em:450nm
P-Ser
Tau
Asp
Thr
Ser
Asn
Glu
Gly
Ala
Cit
aABA
Val
Cys
Met
Ile
Leu
Tyr
Phe
b-AlabAIBA
Trp
His1-Me-His
Lys
NH3+Ethanolamine
Arg

5. Issue 1, December 2015
Sandor Lifesciences Pvt. Ltd. 8-2-326/5, Plot No. 1, Road No. 3, Banjara Hills, Hyderabad - 500 034, Telangana, India
CIN: U85110TG2004PTC043672
Page 5
Molecular Diagnostics of Infectious Diseases (New Tests)
At Sandor, our goal is to assist clinicians to make quicker decisions in the prognosis and management of different
infections. Molecular identification in clinical settings is a faster method allowing clinicians to avoid prolonged
management based on empiric medication and to implement specific therapy.
Molecular diagnostics based on Nucleic acid based methods detect organism specific DNA or RNA sequences
extracted from the microorganism. Nucleic acid–based tests are qualitative, but quantification methods do exist for
limited pathogens and can be useful for diagnosis and monitoring of response to treatment. Monitoring of any
infection by Real Time PCR [RT-PCR] assay has high end clinical value and utility in pace with critical care. It
detects/quantifies any infectious agent in any type of appropriate sample with high specificity and sensitivity. In
comparison to conventional cultures and serological detection assays real-time PCR assay has admirable
turnaround times. As this technique does not require post PCR processing, chances of false positivity is very
uncommon as compared to conventional PCR.
Some of the advantages of molecular detection by Real Time PCR are:
Wide range of pathogen detection
High sensitivity & specificity
High end clinical value and utility
Viral load monitoring
Low turnaround time compared to conventional methods
Testing of wide range specimen types
Sandor offers the following tests by Real time PCR:
Hepatitis B virus [HBV] detection, viral load and genotyping
Hepatitis C [HCV] detection, viral load and genotyping
Human Immuno deficiency virus [HIV-1] – detection and viral load
Herpes simples virus 1 &2 – detection
Cytomegalovirus[CMV]- viral load
Epstein-Barr virus[EBV]- viral load
Parvo virus B19- viral load
BK virus- viral load
JC virus - viral load
Human adenovirus- viral load
M. tuberculosis complex and non tuberculosis mycobacterium-detection
Catch Us At
1st International conference on Pediatric Rare Disease on 27th - 28th November 2015 at BM Birla Science &
Technology Centre, Statue Circle, Jaipur (www.ncpcc2015.com)
Feedback
We would like to hear from our Customers. We invite you to share your questions and comments with us. This can
be regarding existing tests, new tests that you might be interested in, the way we report results, other services that
we can provide, etc. Feel free to send your comments to us on promotions@sandor.co.in