Page 93 - pathology_services_handbook_5th_edition_2018

Type of Speci- Container/Preserva-
No. Test Unit Form Sample Volume Referral Lab TAT Remark
men tives
IMR
Mitochondrial DNA Deletion
(Molecular
275. Syndromes - Chronic Progressive Chem. Patho. Blood IMR/UMDP/ 02 EDTA tube 2 EDTA tubes (2 ml Diagnostic & 30 working days
for each tube)
External Ophthalmoplegia (CPEO)
Protein)
IMR
Mitochondrial DNA Deletion Syn- LIST OF TESTS
276. dromes - Kearn-Sayre Syndrome Chem. Patho. Blood IMR/UMDP/ 02 EDTA tube 2 EDTA tubes (2 ml (Molecular 30 working days
(KSS) for each tube) Diagnostic &
Protein)
IMR
Mitochondrial DNA Deletion 2 EDTA tubes (2 ml (Molecular
277. Chem. Patho. Blood IMR/UMDP/ 02 EDTA tube 30 working days
Syndromes - Pearson Syndrome for each tube) Diagnostic &
Protein)
IMR
Mitochondrial DNA Depletion 2 EDTA tubes (2 ml (Molecular
278. Chem. Patho. Blood IMR/UMDP/ 02 EDTA tube 30 working days
Syndromes (MDS) Panel for each tube) Diagnostic &
Protein) Please refer page
Mitochondrial IMR 178 No. 4.6
Encephalomyopathy, Lactic 2 EDTA tubes (2 ml (Molecular
279. Chem. Patho. Blood IMR/UMDP/ 02 EDTA tube 30 working days
Acidosis, and Stroke-Like for each tube) Diagnostic &
Episodes (MELAS) Syndrome Protein)
IMR
Mitochondrial HMG-CoA Syn- 2 EDTA tubes (2 ml (Molecular
280. Chem. Patho. Blood IMR/UMDP/ 02 EDTA tube 30 working days
thase Deficiency (HMGCS2) for each tube) Diagnostic &
Protein)
IMR
Mitochondrial
281. Neurogastrointestinal Chem. Patho. Blood IMR/UMDP/ 02 EDTA tube 2 EDTA tubes (2 ml (Molecular 30 working days
Encephalopathy (TYMP) for each tube) Diagnostic &
Protein)
IMR
Mitochondrial Short-Chain Enoyl- 2 EDTA tubes (2 ml (Molecular
282. Chem. Patho. Blood IMR/UMDP/ 02 EDTA tube 30 working days
CoA Synthase Deficiency (ECHS1) for each tube) Diagnostic &
Protein)
Molecular study for acute leukae- Blood/Bone Molecular Analysis for
283. Haematology EDTA tube 2.5-5 ml IMR 1 month
mia marrow aspirate Leukaemia Version 2.0
Molecular study for alpha Must have Hb
284. Haematology Blood EDTA tube 2.5 ml HKL 60 working days
thalasemia DNA Ana for Thal Synd Analysis done
& Hbpathy(s) REQform
Molecular study for beta thal- Version 3.0 To send parent’s
285. Haematology Blood EDTA tube 2.5 ml each IMR 1 month sample for pae-
assemia
diatric patient
Molecular study for BCR-ABL BMA / Molecular Analysis for
286. Haematology EDTA tube 2 ml IMR 1 month
(Diagnosis/New case) Peripheral Blood Leukaemia

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