panduan patologi kimia 2015

PANDUAN

PERKHIDMATAN PATOLOGI KIMIA

HOSPITAL SULTANAH AMINAH

JOHOR BAHRU

2015

PANDUAN PERKHIDMATAN PATOLOGI KIMIA

HOSPITAL SULTANAH AMINAH JOHOR BAHRU VERSI 1 (2015)

KANDUNGAN

M/S

Pengenalan

1

Lokasi Makmal 1

Skop Perkhidmatan 1

Waktu Perkhidmatan

Hubungi Makmal

1

1

Informasi Pegawai 2

Senarai Ujian yang dijalankan di makmal Patologi Kimia, HSAJB 3-10

Senarai Ujian yang dirujuk ke makmal luar 11-21

Lampiran 22

Lampiran 1: Senarai Ujian STAT 23

Lampiran 2: Jadual Penghantaran Spesimen ke makmal rujukan 24

Lampiran 3: Panduan Bekas Spesimen 25

Lampiran 4: Panduan Order of Draw For Multiple Tube Collections 26

Lampiran 5: Panduan ujian Renin dan Aldosterone 27-28

Lampiran 6: Panduan Ujian Inborn Error of Metabolism 29-31

Lampiran 7: Borang-Borang 32-42

1

PANDUAN PERKHIDMATAN PATOLOGI KIMIA, HSA, VERSI 1, 2015

PERKHIDMATAN PATOLOGI KIMIA

PENGENALAN

Unit Patologi Kimia menawarkan perkhidmatan analisa spesimen dan konsultasi keputusan

untuk tujuan membantu perawatan pesakit di Hospital Sultanah Aminah, Johor Bahru. Unit ini juga

menjadi makmal rujukan bagi ujian-ujian khas tertentu untuk seluruh Negeri Johor.

LOKASI

Tingkat Bawah, Bangunan Teratai

Hospital Sultanah Aminah

SKOP PERKHIDMATAN

Perkhidmatan Patologi Kimia meliputi analisa dan interpretasi perubahan biokimia dalam darah

dan cecair badan untuk tujuan penyaringan, diagnosa dan pemantauan penyakit. Perkhidmatan

dibahagikan kepada beberapa seksyen iaitu: main chemistry, immunoassay, special protein, diabetic

tests, urine and body fluids, miscellaneous tests dan seksyen dadah. Unit ini juga mengendalikan

pemprosesan dan penghantaran spesimen bagi ujian biokimia ke makmal-makmal rujukan sekiranya

ujian tidak ditawarkan di sini.

WAKTU PERKHIDMATAN

24 jam sehari

Setiap hari termasuk cuti umum

HUBUNGI MAKMAL

Makmal Patologi Kimia

No Tel: 07-2231666 (ext 2630)

Fax: 07-2231803

2


INFORMASI PEGAWAI

NAMA PEGAWAI

NO TELEFON

Dr Shahannim Binti Izham

Pakar Patologi Kimia

Ketua Unit Patologi Kimia

No Tel: 07-2231666 (ext 2633)

Dr Yong Pei Wen

Pegawai Perubatan

No Tel: 07-2231666 (ext 2630)

Encik Abdul Halim bin Gahar

Pegawai Sains Kanan

Ketua Pegawai Sains

No Tel: 07-2231666 (ext 2634)

Pn Noor Hayati A. Kadir

Pegawai Sains Kanan

Y/M Seksyen Dadah

No Tel: 07-2231666 (ext 2633)

Pegawai-pegawai Sains:

Pn Deviga Balakersnan

Pn Nooraishah Pairan

Pn Suhana Razali

Encik Khairul Anuar Abu Kasim

No Tel: 07-2231666 (ext 2630)

Juruteknologi Makmal Perubatan Kanan:

Pn Ashila Jaafar

En Sudin Suni

No Tel: 07-2231666 (ext 2630)

SENARAI UJIAN YANG DIJALANKAN DI MAKMAL PATOLOGI KIMIA, HSAJB

NO TESTS SECTION TYPE OF SPECIMEN

SPECIMEN CONTAINER

VOLUME OF SPESIMEN

LAB TURN AROUND TIME

REMARK

1 Alanine Transaminase (ALT) Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)

2 Albumin Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)

CSF Plain container/Bijou bottle

1 ml 1 hour (STAT)

3 Alkaline Phosphatase (ALP) Main Chemistry Blood Li Heparin 4 mls 4 hours

4 Alpha feto protein (AFP) Immunoassay Blood Li Heparin 4 mls 3 working days Requesting specialist’s signature is required

5 Ammonia Main Chemistry Blood EDTA 2.5 mls 1 hour (STAT)

Send EDTA tube in ice

6 Amylase Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)

Urine Urine container 5 mls 1 hour (STAT) 4 hours (routine)

7 Apt Test Miscellaneous Blood in gastric aspirate/stool

Universal/urine container

>1 ml 1 hour

8 Arterial blood gas (ABG) 1) pH 2) pO2 3) pCO2 4) HCO3

STAT Blood Heparinized syringe

0.5-1 mls 30 minutes (STAT) Send sample in ice

9 Aspartate Transaminase (AST) Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)

10 Beta Human Chorionic Gonadotrophic (BHCG)

Immunoassay Blood Li Heparin 4 mls 3 working days

11 Bilirubin, Total Main Chemistry Blood Li Heparin 4 mls* 1 hour (STAT) 4 hours (routine)

12 Bilirubin, Direct Main Chemistry Blood Li Heparin 4 mls* 1 hour (STAT) 4 hours (routine)

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SPECIMEN CONTAINER

VOLUME OF SPESIMEN


REMARK

13 Bilirubin, Indirect Main Chemistry - - - 1 hour (STAT) 4 hours (routine)

Calculated from total bilirubin and direct bilirubin

14 Body fluid for biochemistry 1) Total protein 2) Albumin 3) LDH 4) Amylase 5) Glucose

Main Chemistry Body fluid Universal container

4 mls 4 hours

15 CA 125 Immunoassay Blood Li Heparin 4 mls 3 working days Requesting specialist’s signature is required

16 Carcinoembryonic Antigen (CEA) Immunoassay Blood Li Heparin 4 mls 3 working days Requesting specialist’s signature is required

17 Cardiac enzymes (CE) 1) CK 2) AST 3) LDH

Main Chemistry Blood Li Heparin 4 mls 4 hours

18 C-Reactive Protein (CRP) Main Chemistry Blood Li Heparin 4 mls 4 hours

19 Complement 3 (C3) Special Protein Blood Li Heparin 4 mls 2 days

20 Complement 4 (C4) Special Protein Blood Li Heparin 4 mls 2 days

21 Calcium Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)

Urine random/24 hours

Urine container/ 24hr urine container

5 mls/ 24 hours collection

4 hours

22 Cerebrospinal Fluid (CSF) for biochemistry

1) Appearance 2) Protein 3) Glucose 4) Lactate

Main Chemistry CSF Plain container/Bijou bottle

1 ml

1 hour (STAT)

Send CSF sample immediately to lab.

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SPECIMEN CONTAINER

VOLUME OF SPESIMEN


REMARK

23 Chloride Main Chemistry

Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)

CSF Plain container/Bijou bottle

1 ml 1 hour (STAT)

Send CSF sample immediately to lab.




4 hours

24 Cholinesterase Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)

25 Cortisol Immunoassay Blood Li Heparin 4 mls 3 working days

26 Creatine Kinase (CK) Main Chemistry Blood Li Heparin 4 mls 4 hours

27 Creatinine Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)




4 hours

28 Estradiol Immunoassay Blood Li Heparin 4 mls 5 working days

29 Ferritin Immunoassay Blood Li Heparin 4 mls 3 hours (STAT*) 3 working days

*STAT testing for severe dengue cases

30 Folate Immunoassay Blood Plain tube/ Li Heparin

4 mls 3 working days

31 Follicle Stimulating Hormone (FSH)


32 Free Triiodothyronine (FT3) Immunoassay Blood Li Heparin 4 mls 3 working days

33 Free Thyroxine (FT4) Immunoassay Blood Li Heparin 4 mls 3 working days

34 Gamma Glutamyl Transferase (GGT)

Main Chemistry Blood Li Heparin 4 mls 4 hours

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SPECIMEN CONTAINER

VOLUME OF SPESIMEN


REMARK

35 Globulin Main Chemistry - - - 4 hours Calculated from total protein and albumin

36 Glucose Main Chemistry Blood Fluoride tube 2 mls 1 hour (STAT) 4 hours (routine)

37 HBA1C Miscellaneous Blood EDTA tube 2.5 mls 3 working days

38 Immunoglobulin A (IgA) Special protein Blood Li Heparin 4 mls 2 working days

39 Immunoglobulin G (IgG) Special protein Blood Li Heparin 4 mls 2 working days

40 Immunoglobulin M (IgM) Special protein Blood Li Heparin 4 mls 2 working days

41 Iron, Total Main Chemistry Blood Li Heparin 4 mls 2 working days

42 Iron profile/Study 1) Total iron 2) Unbound iron binding

capacity (UIBC) 3) Total iron binding

capacity (TIBC)

Main Chemistry Blood Li Heparin 4 mls 2 working days TIBC is calculated from Total iron and UIBC

43 Lactate Main Chemistry Blood

Fluoride tube 4 mls 1 hour (STAT)

44 Lactate Dehydrogenase, (LDH) Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)

45 Leutinizing Hormone (LH) Immunoassay Blood Li Heparin 4 mls 5 working days

46 Lipid Profile 1) Total Cholesterol, (TC) 2) HDL-Cholesterol 3) LDL-Cholesterol 4) Triglycerides (TG)

Main Chemistry Blood Li Heparin 4 mls 2 working days LDL-Cholesterol is calculated from TC, HDL-C and TG

47 Liver Function Test 1) Total Protein 2) Albumin 3) Globulin 4) Total bilirubin 5) ALP 6) ALT

Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT*) 4 hours (routine)

* STAT request is offered for acute liver failure, pre-eclampsia and severe dengue cases only. Call Medical Officer/Chemical Pathologist on call for urgent requests for other indications

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SPECIMEN CONTAINER

VOLUME OF SPESIMEN


REMARK

48 Magnesium (MG) Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)




4 hours

49 Myoglobin Immunoassay Blood Li Heparin 4 mls 4 hours (routine)

50 Osmolality Miscellaneous Blood Plain tube 2 mls 3 hours

Urine Urine Container 2 mls 3 hours

51 Phosphate Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)




4 hours

52 Potassium Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)




4 hours

53 Pre-eclampsia profile (PE profile) 1) Sodium 2) Potassium 3) Chloride 4) Urea 5) Creatinine 6) Uric acid 7) ALT 8) AST

Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)

54 Prolactin Immunoassay Blood Li Heparin 4 mls 3 working days

55 Progesterone Immunoassay Blood Li Heparin 4 mls 5 working days

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SPECIMEN CONTAINER

VOLUME OF SPESIMEN


REMARK

56 Prostate Specific Antigen (PSA) Immunoassay Blood Li Heparin 4 mls 3 working days Requesting specialist’s signature is required

57 Renal Profile 1) Sodium 2) Potassium 3) Chloride 4) Urea 5) Creatinine

Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)

58 Rheumatoid Factor Special Protein Blood Li Heparin 4 mls 2 days

59 Sodium Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)




4 hours

60 Stool occult blood Miscellaneous Stool Urine container 1 gm 3 hours

61 Testosterone Immunoassay Blood Li Heparin 4 mls 3 working days

62 Thyroid function test 1) TSH 2) Free T4


63 Thyroid Stimulating Hormone, TSH


64 Total Iron Binding Capacity, TIBC Main Chemistry - - - 2 days Calculated from Total Iron and UIBC

65 Total Protein Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)




4 hours

66 Total Serum Bilirubin (TSB) 1) Total bilirubin 2) Direct Bilirubin

Main Chemistry Blood Li Heparin 4 mls (*400-600ul in microtainer tube for pediatric patients)

1 hour (STAT) 4 hours (routine)

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SPECIMEN CONTAINER

VOLUME OF SPESIMEN


REMARK

67 Troponin T STAT Blood Li Heparin 4 mls 1 hour (STAT)

68 Unbound Iron Binding Capacity, UIBC

Main Chemistry Blood Li Heparin 4 mls 2 days

69 Urea Main Chemistry Blood Li Heparin 4 mls 1 hour (STAT) 4 hours (routine)




4 hours

70 Uric acid Main Chemistry Blood Li Heparin 4 mls 4 hours




4 hours

71 Urine microalbumin Main Chemistry Urine random/24 hours



4 hours

72 Urine albumin Creatinine Ratio (ACR)

Main Chemistry urine Urine Container 5 mls random 4 hours ACR is calculated from urine microalbumin and urine creatinine

73 Urine hemoglobin Miscellaneous urine Urine container 2 mls 3 hours

74 Urine myoglobin Miscellaneous urine Urine container 2 mls 3 hours

75 Urine paraquat Miscellaneous urine Urine container 5 mls 1 hour

76 Urine reducing sugar Miscellaneous urine Urine container 2 mls 3 hours

77 Urine pregnancy test Miscellaneous urine Urine container 2 mls 3 hours

78 Vitamin B 12 Immunoassay Blood Li Heparin 4 mls 3 working days

9

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SPECIMEN CONTAINER

VOLUME OF SPESIMEN


REMARK

79 Morphine screening and confirmation

Drug Urine Urine container 20 mls 5 working days Use form UDP 1 (PINDAAN) *PER.PAT301 form is strictly for inpatient only

80 Cannabinoid screening and confirmation

Drug Urine Urine container 20 mls 5 working days

81 Amphethamine type stimulant (ATS) screening and confirmation

Drug Urine Urine container 20 mls 14 working days

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10

SENARAI UJIAN PATOLOGI KIMIA YANG DI RUJUK KE MAKMAL LUAR

NO TESTS HOSPITAL TYPE OF SPECIMEN

SPECIMEN CONTAINER

VOLUME OF SPESIMEN

REFERRAL LAB TURN AROUND TIME

REMARK*

1. Acid alpha glucosidase Biochemistry unit, IMR

Dried blood spot Whatmann 903 filter paper

3 circles of blood spot

15 working days IEM form

2. Adenocorticotrophic Hormone (ACTH)

HKL Blood EDTA in ice 3 mls 5 working days

3. Aldosterone Putrajaya Blood EDTA 3 mls 6 weeks Send sample rapidly to lab but NOT in ice

Use different tubes for Renin and aldosterone.

Only single form is required for aldosterone & renin.

4. Alpha-1-acid glycoprotein

Ampang Blood Plain tube 4 mls 10 working days

5. Alpha-1-antitrypsin, Quantitation HKL Blood Plain tube 3 mls 5 working days

6. Alpha-1-antitrypsin, Phenotyping

Molecular and Protein Unit, IMR

Blood Plain tube 4 mls 10 working days IMR/UMDP/01 form

7. Alpha-2-macroglobulin

Ampang Blood Plain tube 4 mls 10 working days

8. Amino acid Biochemistry Unit, IMR

CSF Universal container

0.5 mls 10 working days IEM form

Blood Lithium heparin 4 mls

Urine Urine container 5 mls

9. Androstenedione Putrajaya Blood Plain tube 3 mls 6 weeks

10. Apolipoprotein A HKL Blood Plain tube 3 mls 20 working days

11. Apolipoprotein B HKL Blood Plain tube 3 mls 20 working days

12. Beta-2-microglobulin Ampang Blood Plain tube 4 mls 10 days

* Use PER PAT 301 form unless otherwise stated.

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SPECIMEN CONTAINER

VOLUME OF SPESIMEN


REMARK*

13. Biotinidase Enzyme Activity Biochemistry Unit, IMR

Dried blood spot in filter paper

Whatmann 903 Filter paper

3 circles of Dried blood spots

10 working days

14. CA 15-3 HKL Blood Plain tube 3 mls 2 working days

15. CA 19-9 HKL Blood Plain tube 3 mls 2 working days

16. Caeruloplasmin HKL Blood Plain tube 3 mls 5 working days

17. Carnitine, Total and Free, plasma Biochemistry Unit, IMR

Blood Lithium heparin 4 mls 5 working days IEM form

18. Cathecholamine Putrajaya Urine 24 hours urine container with 10 mls of 25% HCL

24 hours urine collection

6 weeks

19. Copper HKL Blood Plain tube 3.5 mls 10 working days

Urine 24 hour urine container without preservative

24 hour urine collection

10 working days

20. Cortisol, Urine Free Cortisol HKL Urine 24 hour urine container without preservative


3 working days

21. C-Peptide HKL Blood Plain tube 3 mls 5 working days

22. CSF Electrophoresis (oligoclonal bands)


Paired blood and CSF samples

Plain tube/ sterile container

4 mls blood 1 ml CSF

10 working days IMR/UMDP/01 form

23. Dehydroepiendosterone Sulphate (DHEAS)

Diabetes and endocrine unit, IMR

Blood Plain tube 3 mls 4 weeks

24. Delta-Amino Levulinic Acids (D-ALA)

Biochemistry Unit, IMR

Urine 24 hour 24 hour urine container with 10 mls glacial acetic acid



25. Free light chain kappa & lambda Molecular and Protein Unit, IMR

Blood Plain tube

4 mls 5 working days IMR/UMDP/01 form

26. Fructosamine Ampang Blood Plain tube 4 mls 10 working days


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SPECIMEN CONTAINER

VOLUME OF SPESIMEN


REMARK*

27. Galactose, Total/Screening, blood spot


Dried blood spot Whatmann 903 Filter paper

3 circles of dried blood spots


28. Galactose-1-phosphate Uridyl Transferase (GALT/G1PUT), blood spot


Dried blood spot Whatman 903 Filter paper



29. Glycosaminoglycan (GAG), urine Biochemistry Unit, IMR

First morning urine

Urine container 5 mls 10 working days IEM form

30. Growth Hormone Diabetes and Endocrine Unit, IMR


31. Haptoglobulin HKL Blood Plain tube 3 mls 5 working days

32. Homocysteine HKL Blood Plain tube in ice 3 mls 20 working days

33. Ig E, Specific Allergy, IMR Blood Plain tube 3 mls 5 working days

34. Ig E, Total Allergy, IMR Blood Plain tube 3 mls 5 working days

35. Insulin HKL Blood Plain tube 3 mls 10 working days

36. Insulin Like Growth Factor-1 (IGF-1)

Diabetes and Endocrine Unit, IMR


37. Intact Parathyroid hormone Diabetes and Endocrine Unit, IMR

Blood EDTA 2.5 mls 4-5 weeks

38. Lead Toxicology and Pharmacology, IMR

Blood Lithium heparin 2 mls 14 working days

39. Lipoprotein (a) electrophoresis Molecular and Protein Unit, IMR

Blood Plain tube 4 mls blood 10 working days IMR/UMDP/01 form

40. Lithium Permai Blood Plain tube 3 mls Same working day (STAT 1 hour)

Need appointment for STAT request

41. Lysosomal enzymes screening Biochemistry Unit, IMR




42. Mercury, urine Toxicology and Pharmacology, IMR

Urine Urine container 10 mls 14 working days


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SPECIMEN CONTAINER

VOLUME OF SPESIMEN


REMARK*

43. Metabolic Screening, blood spot (Test for amino acids and acylcarnitines)





44. Metabolic Screening, urine(Test for amino acids and acylcarnitines)


Urine, random Urine container 2 mls 10 working days IEM form

45. Mucopolysaccharides Screening (MPS), urine


First morning urine


46. Oligosaccharide & tetraglucoside, urine


First morning urine


47. Organic Acids, urine Biochemistry Unit, IMR


48. Orotic Acids, urine Biochemistry Unit, IMR


49. Phytanic Acid Biochemistry Unit, IMR

Blood EDTA/Lithium heparin

4 mls 10 working days IEM form

50. Pipecolic acid Biochemistry Unit, IMR

Blood Lithium heparin 4 mls 10 working days IEM form

51. Porphobilinogen, urine Biochemistry Unit, IMR


52. Porphyrin, urine Biochemistry Unit, IMR


53. Pre-albumin Ampang Blood Plain tube 4 mls 10 working days

54. Protein electrophoresis Molecular and Protein Unit, IMR

Blood Plain tube 4 mls 30 working days IMR/UMDP/01 form

Urine Urine container 24 hour collection preferable

30 working days


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SPECIMEN CONTAINER

VOLUME OF SPESIMEN


REMARK*

55. Renin Putrajaya Blood EDTA 3 mls 6 weeks Send sample rapidly to lab but NOT in ice

Use different tubes for Renin and aldosterone.

Only single form is required for aldosterone & renin.

56. Sialic Acid, Total and Free Biochemistry Unit, IMR

First morning urine


57. S-Sulphocysteine, urine Biochemistry Unit, IMR


58. Succinylacetone, urine Biochemistry Unit, IMR


59. Sweat Test HKL Not applicable Need approval from pediatric chest specialist. (call ext 6902, HKL for appointment)

60. Thyroglobulin Diabetes and endocrine unit, IMR

Blood Plain tube 3 mls 4-5 weeks

61. Transferrin HKL Blood Plain tube 3 mls 5 working days

62. Transferin Isoform for CDG Type I and Type II screening


Blood Plain tube 5 mls blood


63. Transferin Isoform for CDG type II confirmatory profiling


Blood Plain tube 5 mls blood


64. Uroporphobilinogen, urine Biochemistry Unit, IMR

Urine, random Urine container 5 mls 10 working days


13

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SPECIMEN CONTAINER

VOLUME OF SPESIMEN


REMARK*

65. Very Long Chain Fatty Acid (VLCFA), plasma/serum


Blood EDTA/Lithium heparin

3 mls 10 working days

66. Vitamin D Putrajaya Blood Plain tube 3 mls 6 weeks

67. 5-Hydroxyindol-acetic acid (5-HIAA)

Biochemistry, IMR

Urine, 24 hours 24 hour urine container with 10 mls 25% HCL

24 hours collection

10 working days

68. 17-Hydryoxyprogesterone Diabetes and endocrine unit, IMR

Blood Plain tube 4 mls 4 to 5 weeks


16

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SENARAI UJIAN GENETIC/MOLECULAR

Notes:

All specimen for Genetic/Molecular Testing will be send to Unit of Molecular Diagnostics and Protein (UMDP), Specialized Diagnostic Centre, IMR

Use Request Form for Molecular Diagnostic Services (IMR/UMDP/o2, version 4.2)

Consent from patient or legal guardian is required.

Requesting specialist signature is required.

All Samples are blood in EDTA tubes or blood spots on Whatman 903 Filter paper unless otherwise stated

Volume required is 1-2 x 2.5 mls blood in EDTA tubes or 4 circles of dried blood spots unless otherwise stated.

All Laboratory TAT is 30 working days unless otherwise stated

NO DISEASE (TEST NAME)

METABOLIC DISORDERS

A) Amino Acids Metabolism Disorders

1. 2. 3. 4. 5. 6.

Maple Syrup Urine Disease (BCKDHA, BCKDHB, DBT, DLD gene sequence) Non Ketotic Hyperglycinemia (AMT , GCSH, GLDC gene sequence, GLDC Del/Dup analysis) N-Acetylglutamate Synthase Deficiency (NAGS gene sequence) Urea Cycle Disorder, Carbamoyl Phosphate Synthetase 1 Deficiency (CPS1 gene sequence) *LTAT: 60 days Urea Cycle disorders, Ornithine Transcarbamylase Deficiency (OTC gene sequence, OTC Del/Dup analysis) Urea cycle disorders- Type I Citrullinemia/Argininosuccinate Synthase Deficiency (ASS1 gene sequence) Urea cycle disorder-Arginosuccinic aciduria/Argininosuccinate Lyase

Deficiency (ASL gene sequence)

7. 8. 9. 10. 11. 12. 13. 14.

Lysinuric Protein Intolerance (SLC7A7 gene sequence) Classical Homocysteinuria (CBS gene sequence) Isolated Methylmalonic Acidemia (MMAA, MMAB, MUT gene sequence) Methylmalonic Aciduria and Homocystinuria Type C (MMACHC gene sequence) Methylmalonic Aciduria and Homocystinuria Type D (MMADHC gene sequence) Methylmalonyl-CoA Epimerase Deficiency (MCEE gene sequence) Methylenetetrahydrofolate Reductase Deficiency (MTHFR gene sequence) Glutaric Aciduria Type 1 (GCDH gene sequence)

B) Fatty acid metabolism disorders

16. 17. 18.

Fatty acid oxidation defects-Carnitine Palmitoyltransferase 1 Deficiency (CPT1A gene sequence) Fatty acid oxidation defects-Carnitine Palmitoyltransferase 2 Deficiency (CPT2 gene sequence) Carnithine-Acylcarnitine Translocase Deficiency (SLC25A20 gene sequence)

19. 20. 21.

Carnithine Uptake Deficiency (OCTN2 gene sequence) Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA gene sequence) Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADH gene sequence)

17

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C) Carbohydrate metabolism

22. 23.

Classical Galactosemia (GALT gene sequence) Galactokinase Deficiency (GALK1 gene sequence)

24. 25.

Fructose-1,6-Bisphosphatase Deficiency (FBP1 gene sequence) Galactosemia Epimerase Deficiency (GALE gene sequence)

D) Purine & Pyrimidine Metabolism Disorders

26. 27.

Dihydropyriminidase Deficiency (DPYS gene sequence) Purine Nucleoside Phosphorylase Deficiency (PNP gene sequence)

28. 29.

Lesch-Nyhan Syndrome (HPRT1 gene sequence) Hereditary Orotic Aciduria (UMPS gene sequence)

E) Others

30. 31. 32. 33.

Urea cycle disorder-Type II citrullinemia/Citrin Deficiency (SLC25A13 gene sequence) Tyrosine Hydroxylase Deficiency (TH gene sequence) Aromatic Amino Acid Decarboxylase Deficiency (DDC gene sequence) Ethylmalonic Encephalopathy (ETHE1 gene sequence)

34. 35. 36. 37. 38.

Pompe Disease (GAA gene sequence) Pyruvate Dehydrogenase Deficiency (PDHA1 gene sequence) Alpha-1-antitrypsin Deficiency (SERPINA1 gene sequence) Sulfite Oxidase Deficiency (SUOX gene sequence) X-linked Adrenoleukodystrophy (ABCD1 gene sequence)

MITOCHONDRIAL DISORDERS

39. 40. 41. 42.

Leigh Syndrome (8993 hotspot/mtATP5 gene sequence*,SURF1 gene sequence, mtDNA full panel) *LTAT 14 days for hotspot Mitochondrial DNA Deletion Syndromes – Pearson Syndrone, Kearn-Sayre Syndrome (KSS)*, Chronic Progressive External Ophthalmopegia (CPEO)* Test for mtDNA genes deletion/ duplication analysis * accepted samples: muscle biopsy in sterile container/ 10-20 mls of early morning urine/1-2 X 2.5mL blood EDTA Leber Hereditary Optic Neuropathy (LHON) Syndrome Test for mtDNA genes sequence (LHON Panel) Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome (3243 hotspot/ mt-tRNA Leu sequence, full panel) * accepted samples: muscle biopsy in sterile container/ 20 mls of early morning urine/1-2 X 2.5mL blood EDTA **LTAT for hotspot: 14 working days

43. 44. 45. 46. 47. 48. 49.

Myoclonic Epilepsy with Ragged-Red Fibers (MERRF) Syndrome (8344 hotspot/Test for mt-tRNA Lys sequence * accepted samples: muscle biopsy in sterile container/ 20 mls of early morning urine/1-2 X 2.5mL blood EDTA **LTAT : 14 working days Neuropathy, Ataxia and Retinitis Pigmentosa (NARP) Syndrome (8993 hotspot/Test for mtATP6 gene sequence) *LTAT: 14 working days POLG-Related Disorders (POLG gene sequence) Mitochondrial DNA Depletion Syndromes (ANT1, DGUOK, MPV17, POLG, RRM2B ,SUCLA2, SUCLG1, TWINKLE, TYMP gene sequence) Multiple Respiratory Chain Deficiencies (Mitochondrial Translation Defect) (GFM1 gene sequence) Multiple Respiratory Chain Deficiencies (Mitochondrial Translation Defect) (GFM1 gene sequence) Whole mitochondrial DNA (hotspot and Full panel: mtDNA genes sequence & deletion/ duplication) Note: Request only by Clinical Geneticist/Neurologist.

PA

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, HSA

, VER

SI 1, 2

01

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18

GENETIC SYNDROMES

50. 51. 52.

Fragile X Syndrome (FRAXA: Expansion of CGG repeats of FMR1 gene & FRAXE Expansion of GCC repeats of FMR2 gene) Prader-Willi Syndrome (Test for Absence of non-methylated paternal copy of SNRPN exon 1/ promoter regions) Angelman Syndrome (Test for Absence of non-methylated maternal copy of SNRPN exon 1/ promoter regions and UBE3A gene sequence & deletion/duplication analysis)

53. 54. 55.

Alagilles syndrome (JAG1 gene sequence and deletion&duplication analysis and NOTCH2 gene sequence) Noonan Syndrome (PTPN11 gene sequence) Schinzel Giedion Syndrome (SETBP1 gene sequence)

NEUROGENETIC DISORDERS

56. 57.

Spinal Muscular Atrophy (SMN gene deletion, copy number & sequence) Primary Dystonia (THAP1 gene sequence)

58. 59.

MCT8-Specific Thyroid Hormone Cell Transporter Deficiency (SLC16A2 gene sequence) Lissencephaly (LIS1 gene sequence)

OTHER GENETIC DISORDERS

60. 61. 62. 63. 64. 65. 66. 67. 68.

Pseudorheumatoid Dysplasia (WISP3 gene sequence) Berardinelli Congenital Lipodystrophy (AGPAT2, BSCL2 gene sequence) Retinoblastoma (RB1 gene sequence & deletion/duplication) X-Chromosome Inactivation (Androgen receptor Exon 1 fragment analysis) Acute intermittent porpohyria (HMBS gene sequence & deletion/duplication) Alexander disease (GFAP gene sequence) Biotinidase Deficiency (BTD gene sequence) CADASIL (NOTCH3 Hotspot and Full gene Sequencing*) LTAT for full gene sequencing: 45 days Congenital Disorder of Glycosylation (CDG) Genotyping/ Phosphomannomutase 2 Deficiency (PMM2 gene sequence)

69. 70. 71. 72. 73. 74. 75. 76. 77. 78.

Early-onset Primary Dystonia (TOR1A gene sequence) Hypophosphatasia (ALPL gene sequence) Leopard Syndrome (PTPN11 gene sequence) Maroteaux-Lamy Syndrome, MPS VI (ARSB gene sequence) Medium Chain Acyl-CoA Dehydrogenase (ACADM gene sequence) Very Long Chain Acyl-CoA Dehydrogenase (ACADVL gene sequence) Metachromatic Leukodystrophy (MLD)/ Arylsulphatase A (ARSA gene sequence) PTEN-associated Diseases (PTEN gene sequence & deletion / duplication) Severe Congenital Neutropenia (ELANE gene sequence) DNA Extraction and Storage LTAT: 2 working days

19

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SENARAI UJIAN RESEARCH BASED DI UNIT BIOKIMIA, IMR. (TEMUJANJI DIPERLUKAN)

NO TESTS TYPE OF SPECIMEN

SPECIMEN CONTAINER VOLUME OF SPESIMEN REFERRAL LAB TURN AROUND TIME

1. Alpha-aminoadipic semialdehyde Urine Urine container 2 mls 15 working days

2. Alpha-fucosidase Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

3. Alpha-galactosidase Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

4. Alpha-hexosaminidase (Alpha-N-acetyl glucosaminidase)

Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

5. Alpha-iduronidase Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

6. Alpha-mannosidase, leucocytes Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

7. Alpha-mannosidase, plasma Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

8. Aryl sulphatase A Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

9. Arylsulphatase B (N-acetylgalactosamine 4-sulfatase)

Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

10. Aspartyl-glucosaminidase Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

11. Beta Hexosaminidase A Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

12. Beta Hexosaminidase A + B Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

13. Beta-galactosidase Whole blood 2 x 2.5 mls blood in EDTA tubes 15 working days

14. Beta-glucosidase Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

15. Beta-glucuronidase Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

16. Beta-mannosidase A+B (TOTAL) Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

17. Biogenic amines (5-HIAA, HVA, VMA) Urine Urine container 2mls 15 working days

18. Biogenic amines (5-HIAA, HVA, VMA, 3 MD) CSF Special container from IMR 2mls 15 working days

19. Carnitine, urine 24 hour urine 24 hour urine container 24 hours urine collection 10 working days

20. Creatine Urine, random Urine container 2 mls 15 working days

21. Galactocerebrosidase Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

22. Galactose-1-phosphate Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 10 working days

23. Galactose-6-sulphatase Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

24. Glycogen branching enzyme Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

25. Iduronate-2-sulphatase Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

26. N-acetylglucosamine-6-sulphatase Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

27. Palmitoyl-protein thioesterase Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

28. Pterins, urine Urine, random Urine container 5 mls 15 working days

29. Sugar & Polyols, urine Urine, random Urine container 5 mls 16 working days

30. Sulphamidase Whole blood EDTA 2 x 2.5 mls blood in EDTA tubes 15 working days

20

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SENARAI UJIAN DI JABATAN KIMIA

NO TESTS* (includes but not limited to) REFERRAL LAB TURN

AROUND TIME TYPES OF SPECIMEN/CONTAINER/SPECIMEN VOLUME

REMARK

1. Alcohol (ethanol) 1 – 2 Months Blood, urine, gastric content, gastric lavage content, vomitus, others.

Please consult officer in charge (toxicology unit), before sending samples. Jabatan Kimia Malaysia, Cawangan Johor: 07-222 6366/07-222 6569

2. Insecticide (organophosphate)

3. Drugs (Barbiturates, cocaine)

4. Corrosive agents

5. Gas

6. Heavy metals (Aluminium, arsenic, bromide, cadmium, chromium, lead, nikel, mercury, selenium, zinc)

7. Solvents

8. Others

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LAMPIRAN-LAMPIRAN

23


LAMPIRAN 1: SENARAI UJIAN STAT

SENARAI UJIAN STAT DI MAKMAL PATOLOGI KIMIA, HSA

BIL UJIAN LTAT

1 Arterial Blood Gas 30 minit

2 Ammonia 1 jam

3 Amylase 1 jam

4 Bilirubin 1 jam

5 Calcium 1 jam

6 Chloride 1 jam

7 Creatinine 1 jam

8 CSF chemistry 1 jam

9 Glucose 1 jam

10 Lactate 1 jam

11 Magnesium 1 jam

12 Paraquat (urine) 1 jam

13 Phosphate 1 jam

14 Potassium 1 jam

15 Renal Function test 1 jam

16 Sodium 1 jam

17 Troponin T 1 jam

18 Urea 1 jam

19 LFT* (untuk kes-kes acute liver failure, pre-eclampsia dan severe dengue sahaja)

1 jam

NOTA:

1. Ujian-ujian lain yang diperlukan STAT hendaklah dipohon melalui pegawai perubatan/pakar

patologi Kimia yang bertugas.

2. Sekiranya ujian STAT dipohon bersama dengan ujian-ujian lain (yang tiada dalam senarai STAT)

dalam satu spesimen atau ujian STAT dihantar secara batch, ujian tersebut akan dijalankan

secepat mungkin tetapi LTAT STAT mungkin tidak terjamin.

24


LAMPIRAN 2: JADUAL PENGHANTARAN SPESIMEN KE MAKMAL RUJUKAN

1) Jadual penghantaran spesimen ke makmal rujukan.

MAKMAL RUJUKAN HARI PENGHANTARAN

Hospital Kuala Lumpur Isnin & Rabu

Institute of Medical Research Isnin & Rabu

Hospital Ampang Isnin & Rabu

Hospital Putrajaya Rabu

Jabatan Kimia Malaysia,

cawangan Johor

Khamis

Permai Mengikut permintaan

*Spesimen yang diterima selepas pukul 10 pagi pada hari penghantaran akan dihantar pada hari

penghantaran yang berikutnya

2) Semua permohonan hendaklah disertakan dengan borang PER.PAT 301, kecuali dinyatakan

sebaliknya.

3) Semua ujian yang di rujuk ke makmal di luar HSA dianggap ujian khas dan perlu tandatangan

pakar yang memohon dan sejarah pesakit yang lengkap. Borang yang tidak lengkap akan ditolak.

25


LAMPIRAN 3: PANDUAN BEKAS SPESIMEN

TUBES COLOUR TUBES COLOUR

Lithium heparin Green

Urine container

Plain tube Red

24 hour urine container

Gold

K2-EDTA

Lavender

Bijou bottle

Fluoride Oxalate

Grey

Heparinized

syringe

Syringe must be

labeled.

Unlabeled syringe will

be rejected.

Whatman 903 filter

paper

26


LAMPIRAN 4: RECOMMENDED ORDER OF DRAW FOR MULTIPLE TUBE COLLECTIONS

ORDER OF DRAW CLOSURE COLOR COLLECTION TUBE MIXED BY INVERTING

FIRST

LAST

Blood culture 8 to 10 times

Citrate tube 3 to 4 times

Or

Serum tube (with or without gel) 5 times

Heparin Tube 8 to 10 times

EDTA 8 to 10 times

Fluoride 8 to 10 times

27


LAMPIRAN 5: PANDUAN UJIAN RENIN DAN ALDOSTERONE

28


29


Whatman 903 filter paper.

30


31


32


LAMPIRAN 6: BORANG-BORANG

BORANG PER. PAT 301

33


REQUEST FORM FOR MULTIPLE MYELOMA AND SPECIFIC PROTEIN (IMR/UMDP/01)

34


REQUEST FORM FOR MOLECULAR DIAGNOSTIC SERVICES (IMR/UMDP/02) (PAGE 1 OF 3)

35


REQUEST FORM FOR MOLECULAR DIAGNOSTIC SERVICES (PAGE 2 OF 3)

36


REQUEST FORM FOR MOLECULAR DIAGNOSTIC SERVICES (PAGE 3 OF 3)

37


IEM REQUEST FORM (PAGE 1 OF 2)

38


IEM REQUEST FORM (PAGE 2 OF 2)

39


BORANG UJIAN DADAH (UPD 1 PINDAAN)

40


BORANG PERMOHONAN BAGI PEMERIKSAAN FORENSIK/TOKSIKOLOGI - JABATAN KIMIA (PAGE 1 OF 3)

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NOTA

panduan patologi kimia 2015

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