Special Investigations - Sankara Nethralaya

Special Investigations AtSri Nathella Sampathu Chetty Clinical LaboratoryA Unit of Medical Research FoundationSankara Nethralaya41, College Road, ChennaiEmail : snsclab@snmail.orgDr. S.B.Vasanthi, DirectorByDr.N.Angayarkanni Ph.D,Prof, BiochemistryEstb: 1982Clinical BiochemistryClinical HematologyClinical Microbiology

Since 2007• Clinical Biochemistry : 26• Clinical Pathology : 20& Hematology : 19• Microbiology & Serology : 26• Histopathology : 14& Cytopathlogy : 08Total : 113 TestsRoutine and special+Genetics and Molecular Biology(tests not under scope of NABL)* NABL Current Certificate validity expired on 03.08.13

Dr. KN SulochanaDr.N.AngayarkanniSpecial Investigations inBiochemistry

HPLC analysisAgilent HPLC : with UV and Fluorescent detector.Shimadzu HPLC :UV, Fluorescent, Diode array Electrochemical• Plasma and urine Amino acids*Agilent HPLC since 1997• Vitamin A, E analysis

Atomic Absorption Spectrophotometer:A700 – Perkin ElmerWith Flame and Graphite FurnaceTrace Elements and Toxic Heavy metals Analysis– Copper– Zinc– Iron– Chromium– Selenium– Arsenic– Mercury– Cadmium– LeadSince Jun 2009

• Screening for inborn errors of metabolism :Urine screening : Maple syrup syndrome, cystinuria, phenylketonuria,tyrosinosis, Homogentisic aciduria, Mucopolysaccharidosis, homocysteineGalactosemia• Angiotensin Converting Enzyme• Homocysteine• Ornithine• Serum Amylase• Lactate / pyruvateOther special investigations• Eales’ special biochemistry Work up (Glutathione, Glutathione peroxidase(GPx), Superoxide Dismutase (SOD), TBARS (oxidative stress marker) ,Vitamin A, E and C)• Ceruloplasmin• Electrophoresis : protein (CSF/plasma)

Dr.S.Krishna Kumar Dr.J.BiswasHistopathologySpecial StainsH&E stainPAS stainGMS stain for fungusGomori’s trichrome stain Congo red stain for amyloid Gram stain for bacteria

Detection of Chromosome 3 aberrations for melanomaChromogenic Insitu Hybridisation (CISH).LIVER METASTASISNONINVASIVENORMAL RETINAA B CCISH for chromosome 3 :Hybridized with chromosome 3[A] Invasive melanoma[B] Non-metastasising melanoma[C] Normal retina

Dr.H.N.MadhavanDr.K.Lily ThereseMicrobiology & Serology

UVEITIS & ANA‣ Indirect immunofluorescence test for ANAor Fluorescent anti nuclear antibody test (FANA)Substrate:Primate liver tissuesRodent tissue sectionsHEp-2 cells as substrate ( In house)‣ ELISA for ANAAntigen compositionScreening tests :whole HEp-2 nucleiextract of HEp-2 nucleimixture of defined nuclear antigens,Diagnostic tests:antibody profile (4-8 different antibodiessingle defined antigen

UVEITIS & ANCA‣ Indirect immunofluorescence test‣ Perinuclear anti neutrophil cytoplasmic antibody (pANCA)‣ Cytoplasmic anti neutrophil cytoplasmic antibody (cANCA)Substrate:Ethanol fixed granulocytespANCAcANCA‣ ELISApANCA- Various antigens-MPO, Lactoferrin, Elastase, Cathepsin GcANCA – Proteinase 3 (PR3)

Detection of AQP4 antibodiesNeuro Myelitis Optica Vs Multiple SclerosisThe detection of anti-AQP4 antibodies facilitates an earlystratification of NMO and MS, which is highly important due tothe different treatment recommendations.‣ Treatment modalities: MS and NMOMS: Immunomodulatory therapiesInterferon beta (IFN-ß) andglatiramer acetate (GA)NMO: Corticosteroids and immunosuppressive agents.Non responders: Plasma exchange ortreatment with rituximabNMO-IgG antibody which is highly specific (>99%) , sensitivity 48-72% depending on the assay used.Jarius, S. & Wildemann, B. AQP4 antibodies in neuromyelitis optica: diagnostic and pathogenetic relevance Nat. Rev. Neurol.6, 383–392 (2010)

REVERSE TRANSCRIPTASE PCR TARGETING 85B GENETO DETECT VIABLE MYCOBACTERIUM TUBERCULOSISFROM CLINICAL SPECIMENSCLINICALSPECIMENRNA EXTRACTION-TRIZOL METHODPERFORMANCE OF RTPCRTARGETING 85B GENEDETECTION OF PCRAMPLIFIED PRODUCTSADVANTAGES OF REVERSE TRANSCRIPTASE PCR‣ Rapid Diagnostic method to detect viable Mycobacterium tuberculosisdirectly from any clinical specimen within 7-8 hours.‣ Early detection of M.tuberculosis genome in active tuberculosis is usefulfor initiation of antituberculous therapy.

Dr.A.J.PandianDr.S.SripriyaSN ONGC Dept. of Genetics and Molecular Biology..From Disease to Gene..

Genetic testing and Chromosomal studyName of the test Condition for which the test is done SpecimenRhodopsin (RHO) Gene ScreeningRetinitis pigmentosa & CongenitalStationary Night BlindnessRPE65 Gene ScreeningRetinitis Pigmentosa & Leber’sCongenital AmaurosisCYP1B1 Gene ScreeningPeter’s anomaly, Congenital Glaucoma,Primary and Juvenile Open AngleGlaucomaMYOC Gene ScreeningPrimary and Juvenile Open AngleGlaucomaPAX6 Gene ScreeningPeter’s anomaly & AniridiaRetinoschisis (RS1) Gene Screening RetinoschisisCytogenetic analysis forRetinoblastomaRetinoblastomaScreening the three primarymitochondrial mutations for LebersLebers Hereditary Optic Neuropathy(LHON)Hereditary Optic Neuropathy (LHON)BBS Genes screening for Bardet –Biedl SyndromeBardet – Biedl SyndromeChromosomal StudyChromosomal abnormalities

Patient Information

Genetic CounselingManagement of the disease…80Post test counseling• Genetic defect / risk identified in Patient 1 andexplained the clinical relevanceNo. of days604020• Clinical monitoring prenatally and also after birth forsymptoms• Clinical intervention and effective management of thedisease once detectedGenetic testing (RB1 gene)• Screening and identification of the genetic defect inaffected member (Father and sib of patient 1)• Prenatal testing in the sib for carrier detection and risktransmissionPre-test counseling• Clinical evaluation, pedigree construction andanalysis for risk transmission to the siblingsBetter lifestyle of the patient• Decision on genetic testingPatient 10• Diagnosis - Retinoblastoma

Dr.S.B.Vasanthi Dr.Doreen GraciasHematological Investigations

Forth coming !COAGULATION ANALYSER1. Prothrombin Time2. Activated Partial Thromboplastin Time3. Protein C4. Protein S5. Anti Thrombin III6. APC – R7. DRVV Screen (Lupus Screening)8. DRVV Confirm (Lupus Confirmation)9. Factor VIII10. Factor IX11. VWF (Von Willebrand factor)12. STA FIB213. STA Thrombin214. D- Dimer15. FDP- PlasmaSTA COMPACT FULLY AUTOMATED

A Sankara Nethralaya publicationJaypee: publisherRs. 450/-

SNSC clinical laboratoryThank you21.7.13