Page 92 - pathology_services_handbook_5th_edition_2018
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Type of Speci-                             Container/Preserva-
          No.           Test              Unit                      Form                                       Sample Volume  Referral Lab   TAT         Remark
                                                      men                                          tives
                                                                                                                                 IMR                                                     30 working days
               Mitochondrial DNA Deletion
      HTAA, KUANTAN  276.   External Ophthalmoplegia (CPEO)  Chem. Patho.  Blood  IMR/UMDP/ 02   EDTA tube    2 EDTA tubes (2 ml   Diagnostic &   30 working days
                                                                                                                               (Molecular
                                                                                                              2 EDTA tubes (2 ml
                                                     Blood
               Syndromes - Chronic Progressive
         275.
                                                                                                 EDTA tube
                                                                 IMR/UMDP/ 02
                                       Chem. Patho.
                                                                                                                              Diagnostic &
                                                                                                                for each tube)
                                                                                                                               Protein)
                                                                                                                                 IMR
               Mitochondrial DNA Deletion Syn-
                                                                                                                               (Molecular
               dromes - Kearn-Sayre Syndrome
                                                                                                                for each tube)
               (KSS)
                                                                                                                               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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