Page 195 - Registrar Orientation Manual 2016

Reference:
Effective date:
2015
Expiry date:
2018
Page:
21 of 28
Title: Laboratory Testing Guidelines (DRAFT)
Type:
Clinical Guideline
Version:
01
Authorising initials:
BONE MARROW KARYOTYPE GELSOLIN
FAMILIAL AMYLOID POLYNEUROPATH DYSTROPHY (MYOTONIC) JUNCTOPHILIN 3
HIV ANTI-RETROVIRAL RESISTANCE CONGENITAL ADRENAL HYPERPLASIA CREATINE/CREATININE RATIO NEUROFIBROMATOSIS (TYPE 1) PRADER-WILLI SYNDROME SPINOCEREBELLAR ATAXIA
VON HIPPEL-LINDAU SYNDROME
BONE MARROW (REFERRED)
KARYOTYPE PERIPHERAL BLOOD CANCER ANGELMAN SYNDROME
CHORIONIC VILLI (CYTOGENETICS) THAP1 MUTATION
FAMILIAL ADENOMATOUS POLYPOSIS MOTOR NEURONE DISEASE BECKWITH-WIEDEMANN SYNDROME MICROARRAY FOLLOWUP FISH EVEROLIMUS
ELECTRON MICROSCOPY AMNIOTIC FLUID KARYOTYPE LEBERS OPTIC NEUROPATHY IGH CCND1-MYEOV FISH
CULT PROCESS TISSUE
VERY LONG CHAIN FATTY ACIDS T-CELL GENE REARRANGEMENT IGH BREAKAPART FISH
HIV NUCLEIC ACID (LOAD)
RETT SYNDROME
FGFR3 TARGETED SEQUENCING AML MOLECULAR PANEL TISSUE (ONCOLOGY)
FRAGILE X
HUNTINGTON'S DISEASE SCREEN ACUTE MYELOID LEUKAEMIA PROBE BCR/ABL FISH
J-CHAIN CLONALITY PCR STUDIES KARYOTYPE PERIPHERAL BLOOD TP53 FISH
ATAXIA TELANGIECTASIA
SDHD
MUSCULAR DYSTROPHY PROBE
CMV UL54 GENOTYPE
ALPHA AMINO ADIPIC SEMIALDEHYDE ANEUPLOIDY 5,9,15 FISH
D13S319 FISH
FISH TEST FOR CERBB2
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