A - Z Test List

Test List: C

# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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C Peptide

Code

CPEP

Sample Reqs

B

C Reactive Protein

Code

CRP

Sample Reqs

B

C Reactive Protein (High Sensitivity)

Code

HCRP

Sample Reqs

B

C1 Esterase Inhibitor

Code

C1EI

Sample Reqs

B

C1 Esterase: Function & Total

Code

FC1E

Sample Reqs

C C (Plasma Frozen) [4] [18]

Special Instructions

[4] Send to the laboratory without delay.
[18] Citrate Samples. Samples should be double spun and separated and frozen within 4-8 hours of sample taking, if a delay is expected with transportation to the laboratory, samples must be transported as frozen.

C1q Binding Immune Complex

Code

IMCP

Sample Reqs

B

C2 Complement

Code

C2

Sample Reqs

B

C3 / C4 Complement

Code

COMP

Sample Reqs

B

C3 Complement

Code

C3

Sample Reqs

B

C4 Complement

Code

C4

Sample Reqs

B

C8 Complement

Code

C8

Sample Reqs

B (Frozen)

CA 125

Code

C125

Sample Reqs

B

CA 15-3

Code

C153

Sample Reqs

B

CA 19-9

Code

C199

Sample Reqs

B

CA 50

Code

CA50

Sample Reqs

B

CA 72-4

Code

C724

Sample Reqs

B

Cadmium (Blood)

Code

CADM

Sample Reqs

A or H

Cadmium (Urine)

Code

URCD

Sample Reqs

RU [30]

Special Instructions

[30] Collect sample at end of exposure.

Caeruloplasmin

Code

CERU

Sample Reqs

B

Caffeine

Code

CAFF

Sample Reqs

B [1]

Special Instructions

[1] Contact the laboratory for special sample tubes/containers/instructions.

Calcitonin

Code

CATO

Sample Reqs

B (Frozen) [4]

Special Instructions

[4] Send to the laboratory without delay.

Calcium

Code

CA

Sample Reqs

B

Calcium (24 hr Urine)

Code

UCA

Sample Reqs

PU

Calcium / Creatinine Ratio

Code

CACR

Sample Reqs

RU B

Calprotectin

Code

CALP

Sample Reqs

RF

Special Instructions

min. 10g

Calprotectin/Elastase Profile

Code

CEP

Sample Reqs

RF

Campylobacter Jejuni Antibodies

Code

CJAB

Sample Reqs

B

Candida Antibodies

Code

CANA

Sample Reqs

B

Candida Antigen

Code

CCAG

Sample Reqs

B

Cannabinoids (Urine) Screen

Code

CANN

Sample Reqs

RU

Carbamazepine (Tegretol)

Code

CARB

Sample Reqs

B

Carbapenemase producing organism screen

Code

MDR

Sample Reqs

STM (Rectal)

Carbohydrate Deficient Glycoprotein

Code

CDG

Sample Reqs

B

Carbohydrate Deficient Transferrin (CDT)

Code

CDT

Sample Reqs

B [4]

Special Instructions

[4] Send to the laboratory without delay.

Carboxyhaemoglobin

Code

CBHB

Sample Reqs

H

Special Instructions

Avoid exposure to air.

Carcino Embryonic Antigen

Code

CEA

Sample Reqs

B

Cardiac Enzymes (not chest pain)

Code

CENZ

Sample Reqs

B

Cardiolipin Antibodies (IgG+IgM)

Code

ACAB

Sample Reqs

B

Cardiovascular Risk Profile 1

Code

PP10

Sample Reqs

B B

Cardiovascular Risk Profile 2

Code

PP11

Sample Reqs

B B B C [34]

Special Instructions

[34] Samples must arrive in the laboratory on the same day of sample taking or contact the laboratory.

Carnitine – Free & Total

Code

CARN

Sample Reqs

H (Frozen Plasma)

Carotenes

Code

CARO

Sample Reqs

B [13]

Special Instructions

[13] Protect from light.

Cartilage Antibodies

Code

ACA

Sample Reqs

B

Cashew Components

Code

ZZ35

Sample Reqs

B

Cat Components

Code

ZZ5

Sample Reqs

B

Cat Scratch Fever (Bartonella IgG+IgM)

Code

CAT

Sample Reqs

B

Catecholamines (Plasma)

Code

CATE

Sample Reqs

A A (Plasma Frozen) [4]

Special Instructions

[4] Send to the laboratory without delay.

Catecholamines (Urine)

Code

UCAT

Sample Reqs

PU [1]

Special Instructions

[1] Contact the laboratory for special sample tubes/containers/instructions.

Category 1 Biopsy for Histology

Code

CAT1

Sample Reqs

Single small

Category 2 Biopsy for Histology

Code

CAT2

Sample Reqs

Small medium

Category 3 Biopsy for Histology

Code

CAT3

Sample Reqs

Medium

Category 4 Biopsy for Histology

Code

CAT4

Sample Reqs

Large

Category 5 Biopsy for Histology

Code

CAT5

Sample Reqs

Large complex

CCP Antibodies (RF)

Code

CCP

Sample Reqs

B

CD3 / CD4 / CD8

Code

LYSS

Sample Reqs

A [10] / Chex

Special Instructions

[10] Contact the laboratory for special stability tubes for lymphocyte subsets - or take an EDTA sample and ensure same day delivery to the laboratory, Monday to Friday noon [do not send sample between Friday noon and Monday morning].

CD5 (NK Cells)

Code

CD5

Sample Reqs

A [4]

Special Instructions

[4] Send to the laboratory without delay.

CD5 T+B Cells

Code

CD5

Sample Reqs

A [4]

Special Instructions

[4] Send to the laboratory without delay.

CD16 (NK Cells)

Code

CD16

Sample Reqs

A [4]

Special Instructions

[4] Send to the laboratory without delay.

CD19 (NK Cells)

Code

CD19

Sample Reqs

A [4]

Special Instructions

[4] Send to the laboratory without delay.

CD19 B Cells

Code

CD19

Sample Reqs

A [4]

Special Instructions

[4] Send to the laboratory without delay.

CD20

Code

CD20

Sample Reqs

A [10] / Chex

Special Instructions

[10] Contact the laboratory for special stability tubes for lymphocyte subsets - or take an EDTA sample and ensure same day delivery to the laboratory, Monday to Friday noon [do not send sample between Friday noon and Monday morning].

CD25

Code

CD25

Sample Reqs

A [10] / Chex

Special Instructions

[10] Contact the laboratory for special stability tubes for lymphocyte subsets - or take an EDTA sample and ensure same day delivery to the laboratory, Monday to Friday noon [do not send sample between Friday noon and Monday morning].

CD56 (NK Cells)

Code

CD56

Sample Reqs

A [4]

Special Instructions

[4] Send to the laboratory without delay.

CD69 / CD16 / CD56 (NK Cells)

Code

CD69

Sample Reqs

H [5] [34]

Special Instructions

[5] Do not send sample to the laboratory between Thursday noon and Monday morning.
[34] Samples must arrive in the laboratory on the same day of sample taking or contact the laboratory.

Celery Components

Code

ZZ6

Sample Reqs

B

Centromere Autoantibodies

Code

CAB

Sample Reqs

B

Ceruloplasmin

Code

CERU

Sample Reqs

B

CH50 (Classical pathway)

Code

CH50

Sample Reqs

B (Frozen) [4]

Special Instructions

[4] Send to the laboratory without delay.

Chagas Disease Serology (S.American Trypanosomiasis) T. Cruzi

Code

CHGA

Sample Reqs

B [9] [14]

Special Instructions

[9] Clinical history must be provided.
[14] Provide details of travel history.

Chikungunya Virus Abs

Code

CHIK

Sample Reqs

B [9] [14]

Special Instructions

[9] Clinical history must be provided.
[14] Provide details of travel history.

Chlamydia (PCR swab)

Code

SPCR

Sample Reqs

PCR

Chlamydia (Semen)

Code

UPCR

Sample Reqs

Semen 

Chlamydia (Thin Prep)

Code

TPCR

Sample Reqs

TPV

Chlamydia (Urine)

Code

CPCR

Sample Reqs

FCRU

Chlamydia / Gonorrhoea (PCR Swab)

Code

SCG

Sample Reqs

PCR

Chlamydia / Gonorrhoea (Rectal)

Code

RSCG

Sample Reqs

PCR

Chlamydia / Gonorrhoea (Thin Prep)

Code

TCG

Sample Reqs

TPV

Chlamydia / Gonorrhoea (Throat)

Code

TSCG

Sample Reqs

PCR

Chlamydia / Gonorrhoea (Urine)

Code

CCG

Sample Reqs

FCRU

Chlamydia Species Specific Ab Screen

Code

CHAB

Sample Reqs

B

Chlamydia trachomatis by PCR (Semen)

Code

UPCR

Sample Reqs

Semen

Chloride

Code

CL

Sample Reqs

B

Cholesterol

Code

CHO

Sample Reqs

B

Cholesterol (Familial Hypercholesterolaemia)

Code

GENE

Sample Reqs

A A [9]

Special Instructions

[9] Clinical history must be provided.

Cholinesterase (Blood)

Code

CHRC

Sample Reqs

H

Cholinesterase (Serum / Pseudo)

Code

CHPS

Sample Reqs

B

Chromium (Blood)

Code

CHRO

Sample Reqs

A

Chromium (Urine)

Code

URCR

Sample Reqs

RU [30]

Special Instructions

[30] Collect sample at end of exposure.

Chromogranin A

Code

CGA

Sample Reqs

B

Chromogranin A & B

Code

MTAB

Sample Reqs

J [1]

Special Instructions

[1] Contact the laboratory for special sample tubes/containers/instructions.

Chromosome Analysis (Amniocentesis) – culture only

Code

ACUL

Sample Reqs

AF [9]

Special Instructions

[9] Clinical history must be provided.

Chromosome Analysis (Amniocentesis) – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)

Code

ABK

Sample Reqs

AF [9]

Special Instructions

[9] Clinical history must be provided.

Chromosome Analysis (Amniocentesis) – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days)

Code

APCC

Sample Reqs

AF [9]

Special Instructions

[9] Clinical history must be provided.

Chromosome Analysis (Blood)

Code

KARY

Sample Reqs

H [9]

Special Instructions

[9] Clinical history must be provided.

Chromosome Analysis (Bone Marrow) – please send with complete Leukaemic Studies Request form

Code

CBMA

Sample Reqs

Contact Lab

Chromosome Analysis (Chorionic Villus) – culture only

Code

CVSC

Sample Reqs

CVS [1] [9]

Special Instructions

[1] Contact the laboratory for special sample tubes/containers/instructions.
[9] Clinical history must be provided.

Chromosome Analysis (Chorionic Villus) – rapid BOBs aneuploidy diagnosis for all chromosomes (5 days) + culture (10-15 days)

Code

CBK

Sample Reqs

CVS [9]

Special Instructions

[9] Clinical history must be provided.

Chromosome Analysis (Chorionic Villus) – rapid PCR diagnosis for common aneuploidies (2 days) + culture (10-15 days) Code

Code

CVPC

Sample Reqs

CVS [1] [9]

Special Instructions

[1] Contact the laboratory for special sample tubes/containers/instructions.
[9] Clinical history must be provided.

Chromosome Analysis (Product of Conception) – BOBs rapid aneuploidy diagnosis for all chromosomes (5 days) + culture (25 days)

Code

PBK

Sample Reqs

Placental Sample [1] [9]

Special Instructions

[1] Contact the laboratory for special sample tubes/containers/instructions.
[9] Clinical history must be provided.

Chromosome Analysis (Products of Conception)

Code

PROC

Sample Reqs

Placental Sample [1] [9]

Special Instructions

[1] Contact the laboratory for special sample tubes/containers/instructions.
[9] Clinical history must be provided.

Chromosome Analysis (Slide for opinion)

Code

CHSL

Sample Reqs

Slide [9]

Special Instructions

[9] Clinical history must be provided.

Chromosome Analysis (Solid Tissue)

Code

PROC

Sample Reqs

Fetal tissue [1] [9]

Special Instructions

[1] Contact the laboratory for special sample tubes/containers/instructions.
[9] Clinical history must be provided.

Chromosome Y Deletion – AZFa, AZFb, AZFc + SRY

Code

YDEL

Sample Reqs

A [9]

Special Instructions

[9] Clinical history must be provided.

Citrate (Blood)

Code

CITR

Sample Reqs

B

Citrate (Urine)

Code

UCIT

Sample Reqs

CU (Frozen)

CK (MB Fraction)

Code

CKMB

Sample Reqs

B

CK Isoenzymes

Code

CKIE

Sample Reqs

B

Clobazam

Code

CLOB

Sample Reqs

A

Clomipramine (Anafranil)

Code

CHLO

Sample Reqs

A

Clonazepam

Code

CLON

Sample Reqs

A

Clostridium Difficile Toxin

Code

CLOS

Sample Reqs

RF (not formed stool)

CMV DNA (by PCR)

Code

CMVP

Sample Reqs

A

CMV DNA by PCR (Semen)

Code

SCVM

Sample Reqs

Semen

CMV DNA by PCR (Urine)

Code

CMVU

Sample Reqs

RU

Cobalt (Blood)

Code

COB

Sample Reqs

A

Cobalt (Serum)

Code

COBB

Sample Reqs

B

Cobalt (Urine)

Code

COBA

Sample Reqs

RU [30]

Special Instructions

[30] Collect sample at end of exposure.

Cocaine (Urine) Screen

Code

UCOC

Sample Reqs

RU 

Coccidioidomycosis Antibodies

Code

COCC

Sample Reqs

B

Coeliac Disease – HLA DQ2 / DQ8 Genotype

Code

Q2Q8

Sample Reqs

A [9]

Special Instructions

[9] Clinical history must be provided.

Coenzyme Q10

Code

CQ10

Sample Reqs

B

Cold Agglutinin

Code

CAGG

Sample Reqs

J [1]

Special Instructions

[1] Contact the laboratory for special sample tubes/containers/instructions.

Collagen (Type I, II, IV) Antibodies

Code

COAB

Sample Reqs

B

Collagen Type 1 Cross-Linked N-Telopeptide – NTX

Code

NTX

Sample Reqs

2nd EMU 

Colloid Antigen-2 Antibodies

Code

CA2A

Sample Reqs

B

Complement C1q

Code

C1Q

Sample Reqs

B

Complement C5

Code

C5A

Sample Reqs

B

Complement C6

Code

C6

Sample Reqs

B [4]

Special Instructions

[4] Send to the laboratory without delay.

Complement C7

Code

C7

Sample Reqs

B [4]

Special Instructions

[4] Send to the laboratory without delay.

Complement C9

Code

C9

Sample Reqs

B [4]

Special Instructions

[4] Send to the laboratory without delay.

Complement Factor H

Code

FACH

Sample Reqs

B

Complex PSA (Prostate Specific Ag)

Code

CPSA

Sample Reqs

B

Congenital Absence of Vas Deferens – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions

Code

GRP

Sample Reqs

A H [9] [11]

Special Instructions

[9] Clinical history must be provided.
[11] Patient consent required. Consent Form can be found at the back of the TDL Laboratory Guide.

Connexin-26 Associated Deafness (+ Connexin-30 common deletion)

Code

GENE

Sample Reqs

A [9]

Special Instructions

[9] Clinical history must be provided.

Coombs (Direct Antiglobulin Test) (Handwritten tube label)

Code

COOM

Sample Reqs

A [22] [33]

Special Instructions

[22] Must be fresh.
[33] Sample must be labelled by hand with first name, family name and date of birth detailed on sample and form.

Copper (Serum)

Code

COPP

Sample Reqs

B

Copper (Urine)

Code

URCU

Sample Reqs

CU

Cortisol

Code

CORT

Sample Reqs

B

Cortisol (Urine)

Code

UCOR

Sample Reqs

CU

Cortisol Binding Globulin

Code

CBG

Sample Reqs

B (Frozen)

Cotinine (Saliva)

Code

SCOT

Sample Reqs

Saliva Kit [1]

Special Instructions

[1] Contact the laboratory for special sample tubes/containers/instructions.

Cotinine (Serum)

Code

COT

Sample Reqs

B

Cotinine (Urine)

Code

COTT

Sample Reqs

RU

Cow’s Milk Components

Code

ZZ7

Sample Reqs

B

Coxsackie Antibodies (IgM)

Code

COXM

Sample Reqs

B

Creatine Kinase (CK, CPK)

Code

CKNA

Sample Reqs

B

Creatinine

Code

CREA

Sample Reqs

B

Creatinine (Urine)

Code

UCR

Sample Reqs

CU

Creatinine Clearance

Code

CRCL

Sample Reqs

B  CU

Cri du Chat Syndrome – BOBs (5 days) + karyotype (15 days)

Code

PBOB, KARY

Sample Reqs

CVS / AF / A H [9]

Special Instructions

[9] Clinical history must be provided.

Cri du Chat Syndrome – BOBs only

Code

PBOB

Sample Reqs

CVS / AF / A [9]

Special Instructions

[9] Clinical history must be provided.

Crosslaps (Serum DPD)

Code

SDPD

Sample Reqs

B

Cryoglobulins

Code

CRYO

Sample Reqs

J [6]

Special Instructions

[6] Contact the Referrals Department before taking and sending sample to the laboratory.

Cryptococcal Antigen

Code

CRYC

Sample Reqs

Serum or CSF

Cryptosporidium

Code

CRPO

Sample Reqs

RF

Cryptosporidium Antigen Detection

Code

CRPA

Sample Reqs

RF

CSF (Viral Screen by PCR)

Code

VPCR

Sample Reqs

CSF 

CSF for Microscopy and Culture

Code

CSF

Sample Reqs

CSF

Culture (Any site)

Code

CULT

Sample Reqs

CVS PCR for common anueploidies (2 days) + culture (10-15 days)

Code

CVPC

Sample Reqs

CVS [9]

Special Instructions

[9] Clinical history must be provided.

CVSBOBs – rapid BOBs aneuploidy diagnosis for all chromosomes (3-5 days) + culture (10-15 days)

Code

CBK

Sample Reqs

CVS [9]

Special Instructions

[9] Clinical history must be provided.

CVSBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes

Code

CBOB

Sample Reqs

CVS [9]

Special Instructions

[9] Clinical history must be provided.

Cyclic Amp (Urine)

Code

CAMP

Sample Reqs

CU (Frozen)

Cyclosporin (Monoclonal)

Code

CYCL

Sample Reqs

A

Cyfra 21-1

Code

CY21

Sample Reqs

B

Cystatin C

Code

CYCC

Sample Reqs

B

Cystic Fibrosis – 139 common mutations

Code

CFS

Sample Reqs

A [9]

Special Instructions

[9] Clinical history must be provided.

Cystic Fibrosis Poly T (5T,7T,9T)

Code

PLYT

Sample Reqs

A [9]

Special Instructions

[9] Clinical history must be provided.

Cysticercosis (Taenia Solium) Serology

Code

CYST

Sample Reqs

B

Cystine – Quantitative (Beta-CTX)

Code

QCYS

Sample Reqs

PU

Cytomegalovirus (CMV-DNA) Amnio

Code

CMVD

Sample Reqs

AF

Cytomegalovirus (IgG / IgM) Antibodies

Code

CMV

Sample Reqs

B

Cytomegalovirus (PCR)

Code

CMVU

Sample Reqs

RU

Cytomegalovirus Avidity

Code

CMAV

Sample Reqs

B

Cytomegalovirus DNA (PCR)

Code

CMVP

Sample Reqs

A

Cytomegalovirus IgG / IgM Antibodies

Code

CMV

Sample Reqs

B

Cytomegalovirus IgM

Code

CMVM

Sample Reqs

B

C1Q Deficiency NGS Panel – full sequencing C1QA + C1QB + C1QC genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

CADASIL – NOTCH3 gene sequencing

Code

GENE

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

CAKUT (Congenital Anomalies of Kidney & Urinary Tract) NGS Panel – full sequencing across 38 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

CALR exon 9 analysis

Code

CALR

Sample Reqs

A

Calreticulin – CALR exon 9 mutation screen

Code

GENE

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

Cancer, Comprehensive NGS Panel – full sequencing across 122 genes + deletions/duplications

Code

GENE

Sample Reqs

Requires patient informed consent A, A [9] [11]

Special Instructions

9 Clinical history must be provided. 11 Patient consent required. Consent Form can be found at the back of this guide.

Carbohydrate Metabolism Deficiency NGS Panel – full sequencing across 64 genes + deletions/duplications + mitochondrial DNA

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Cardio-Facio-Cutaneous/Noonan/LEOPARD/Costello Syndromes NGS Panel – full sequencing across 15 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Cardiomyopathy, Arrhythmogenic Right Ventricular NGS Panel – sequencing across 34 genes + deletions/duplications

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Cardiomyopathy, Comprehensive NGS Panel – full sequencing across 223 genes + deletions/duplications

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Cardiomyopathy, Dilated NGS Panel – full sequencing across 56 genes + deletions/duplications

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Cardiomyopathy, Hypertrophic NGS Panel – full sequencing across 77 genes + deletions/duplications

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Carrier Screen (Pan-ethnic or Jewish) – see profiles

Code

GENE

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

Cataract, Congenital NGS Panel – full sequencing across 67 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) NGS Panel – full sequencing across 9 genes + deletions/duplications

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Cerebellar Hypoplasia NGS Panel – full sequencing across 8 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Cerebral Cavernous Malformations Panel – full sequencing KRIT + CCM2 + PDCD10 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Charcot-Marie-Tooth Syndrome NGS Panel – full sequencing across 59 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Charcot-Marie-Tooth Type 1A – PMP22 duplications

Code

GENE

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

CHARGE Syndrome – CHD7 gene sequencing

Code

GENE

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

Chediak-Higashi Syndrome – LYST gene sequencing

Code

GENE

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

Cholestasis, Intrahepatic NGS Panel – full sequencing ABCB11 + ABCB4 + ATP8P1

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Coagulation/Haemophilia NGS Panel – full sequencing across 23 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Cockayne Syndrome NGS Panel – full sequencing ERCC6 + ERCC8

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Coeliac Disease – HLA DQ2/DQ8 genotyping

Code

Q2Q8

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

Coenzyme Q10 Deficiency NGS Panel – full sequencing across 11 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Colorectal Cancer NGS Panel – full sequencing across 16 genes + deletions/duplications

Code

GENE

Sample Reqs

Requires patient informed consent A, A [9] [11]

Special Instructions

9 Clinical history must be provided. 11 Patient consent required. Consent Form can be found at the back of this guide.

Comparative Genomic Hybridisation (Array CGH)

Code

CGH

Sample Reqs

CVS / AF / A, H [9]

Special Instructions

33 Sample must be labelled by hand with first name, family name, gender and date of birth detailed on sample and form. Do not use labels other than the tube label.

Cone-Rod Dystrophy/Macular Dystrophy NGS Panel – full sequencing across 56 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Congenital Absence of Vas Deferens – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions

Code

GRP

Sample Reqs

A, H [9]

Special Instructions

9 Clinical history must be provided.

Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) – 7 mutations + deletions/duplications

Code

GENE

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

Congenital Central Hypoventilation Syndrome (CCHS) – full sequencing PHOX2B gene

Code

GENE

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

Congenital Central Hypoventilation Syndrome (CCHS) – PHOX2B polyalanine repeat analysis

Code

GENE

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

Congenital Disorders of Glycosylation NGS Panel – full sequencing across 64 genes + deletions/duplications + mitochondrial DNA

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Connective Tissue Disorders/Ehlers-Danlos Syndrome/Aneurysm NGS Panel – full sequencing across 46 genes + deletions/duplications

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Connexin-26 Associated Deafness – full sequencing GJB2 gene (+ GJB6 common deletion)

Code

GENE

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

Corneal Dystrophy NGS Panel – full sequencing across 13 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Cornelia de Lange Syndrome NGS Panel – full sequencing across 8 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Costello/Noonan/LEOPARD/Cardio-Facio-Cutaneous Syndromes NGS Panel – full sequencing across 15 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Craniosynostosis – including Crouzon, Jackson-Weiss, Pfeiffer & Saethre-Chotzen Syndromes. Genes analysed are tailored to clinical diagnosis.

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Cri du Chat Syndrome – BOBs (5 days) + karyotype (15 days)

Code

PBOB, KARY

Sample Reqs

CVS / AF / A, H [9]

Special Instructions

9 Clinical history must be provided.

Cri du Chat Syndrome – BOBs only

Code

PBOB

Sample Reqs

CVS / AF / A [9]

Special Instructions

9 Clinical history must be provided.

Cutaneous T-Cell Lymphoma – full sequencing CD28 + DNMT3A + PLCG1 + RHOA + TP53 genes

Code

GENE

Sample Reqs

Requires patient informed consent A, A [9]

Special Instructions

9 Clinical history must be provided.

CVS PCR for common aneuploidies (2 days) + culture (10-15 days)

Code

CVPC

Sample Reqs

CVS [9]

Special Instructions

9 Clinical history must be provided.

CVSBOBs – rapid BOBs aneuploidy diagnosis for all chromosomes (3-5 days) + culture (10-15 days) – see profiles

Code

CBK

Sample Reqs

CVS [9]

Special Instructions

9 Clinical history must be provided.

CVSBOBs only – rapid aneuploidy diagnosis for all chromosomes + common microdeletion syndromes

Code

CBOB

Sample Reqs

CVS [9]

Special Instructions

9 Clinical history must be provided

CYP450 2D6 Genotyping

Code

TGEN

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

Cystic Fibrosis Poly T (5T, 7T, 9T)

Code

PLYT

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

Cystic Fibrosis – 139 common mutations

Code

CFS

Sample Reqs

A [9]

Special Instructions

9 Clinical history must be provided.

Cystinuria NGS Panel – full sequencing SLC3A1 + SLC7A9 genes

Code

GENE

Sample Reqs

A, A [9]

Special Instructions

9 Clinical history must be provided.

Contact Us

HSL is a partnership between The Doctors Laboratory, Royal Free London NHS Foundation Trust (the Royal Free London) and University College London Hospitals NHS Foundation Trust (UCLH)

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Health Services Laboratories
Health Services Laboratories