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1p36 Deletion Syndrome – karyotype + FISH

Code Sample Reqs Turnaround
KARY, FISH CVS / AF / H [9] 12-17 days
Special instructions
[9] Clinical history must be provided.

 

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

Code Sample Reqs Turnaround
GENE A [9][11] 8 weeks
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.

 

22q11 & 10p14 deletion (Di George Syndrome) – BOBs (5 days) + karyotype (15 days)

Code Sample Reqs Turnaround
DGB, KARY CVS / AF / A H [9] 5-15 days
Special instructions
[9] Clinical history must be provided.

 

22q11 & 10p14 deletion (Di George Syndrome) – BOBs only

Code Sample Reqs Turnaround
DGB CVS / AF / A [9] 5 days
Special instructions
[9] Clinical history must be provided.

 

5' Fluorouracil Toxicity (DPD deficiency) – common mutation (IVS14+1G>A)

Code Sample Reqs Turnaround
GENE A [9] 1-2 weeks
Special instructions
[9] Clinical history must be provided.

 

Achondroplasia (Postnatal) – 2 common mutations in FGFR3 (c.1138G>A + c.1138G>C).

Code Sample Reqs Turnaround
GENE A [9] 4 weeks
Special instructions
[9] Clinical history must be provided.

 

Achromatopsia NGS Panel – full sequencing across 6 genes

Code Sample Reqs Turnaround
GENE A A [9] 4 weeks
Special instructions
[9] Clinical history must be provided.

 

Aicardi-GoutiĀres Syndrome NGS Panel – full sequencing across 6 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Alagille Syndrome NGS Panel – full sequencing JAG1 + NOTCH2 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Albinism NGS Panel – full sequencing across 22 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Alpha-1-Antitrypsin Genotype – PI*M, PI*S, PI*Z

Code Sample Reqs Turnaround
GENE A [9] 4 weeks
Special instructions
[9] Clinical history must be provided.

 

Alpha Fetoprotein on Amniotic fluid

Code Sample Reqs Turnaround
AFPA AF [9] 5-10 days
Special instructions
[9] Clinical history must be provided.

 

Alpha Thalassaemia – multiplex PCR for common large deletions

Code Sample Reqs Turnaround
GENE A [9] 4 weeks
Special instructions
[9] Clinical history must be provided.

 

Alport Syndrome NGS Panel – full sequencing COL4A3 + COL4A4 + COL4A5 + MYH9 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Alstrom Syndrome – ALMS1 gene sequencing

Code Sample Reqs Turnaround
GENE A [9] 4 weeks
Special instructions
[9] Clinical history must be provided.

 

Amelogenesis/Dentinogenesis Imperfecta NGS Panel – full sequencing across 20 genes

Code Sample Reqs Turnaround
GENE A A [9] 6 weeks
Special instructions
[9] Clinical history must be provided.

 

AmnioPCR only – rapid common aneuploidy diagnosis by QF-PCR

Code Sample Reqs Turnaround
APC AF [9] 1-2 days
Special instructions
[9] Clinical history must be provided.

 

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

Code Sample Reqs Turnaround
APCC AF [9] 2-15 days
Special instructions
[9] Clinical history must be provided.

 

Amniocentesis culture (karyotype) only

Code Sample Reqs Turnaround
ACUL AF [9] 10-15 days
Special instructions
[9] Clinical history must be provided.

 

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

Code Sample Reqs Turnaround
ABOB AF [9] 3-6 days
Special instructions
[9] Clinical history must be provided.

 

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

Code Sample Reqs Turnaround
ABK AF [9] 5-15 days
Special instructions
[9] Clinical history must be provided.

 

Amylotrophic Lateral Sclerosis (Motor Neurone Disease) NGS Panel – full sequencing across 29 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Androgen Insensitivity – AR gene sequencing

Code Sample Reqs Turnaround
GENE A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

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

Code Sample Reqs Turnaround
GENE A A [9] 4 weeks
Special instructions
[9] Clinical history must be provided.

 

Angelman Syndrome (Primary Screen) – methylation PCR

Code Sample Reqs Turnaround
PWAM A [9] 5 days
Special instructions
[9] Clinical history must be provided.

 

Angelman/Rett Syndromes NGS Panel – full sequencing across 11 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Aniridia, Isolated – PAX6 gene sequencing + deletions/duplications

Code Sample Reqs Turnaround
GENE A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Anophthalmia/Microphthalmia NGS Panel – full sequencing across 30 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Aortopathy/Marfan Syndrome/Loeys-Dietz Syndrome NGS Panel – full sequencing across 26 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Apert Syndrome – 2 common FGFR2 mutations

Code Sample Reqs Turnaround
GENE A [9] 3 weeks
Special instructions
[9] Clinical history must be provided.

 

Apolipoprotein E genotype – E2, E3, E4

Code Sample Reqs Turnaround
APEG A [9] 5 days
Special instructions
[9] Clinical history must be provided.

 

Array CGH (Comparative Genomic Hybridisation)

Code Sample Reqs Turnaround
CGH CVS / AF / A H [9] 10 days
Special instructions
[9] Clinical history must be provided.

 

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) NGS Panel – sequencing across 34 genes + deletions/duplications

Code Sample Reqs Turnaround
GENE A A [9] 4 weeks
Special instructions
[9] Clinical history must be provided.

 

Ashkenazi Jewish Carrier Screen – see Pan-ethnic / Jewish Carrier Profile

Code Sample Reqs Turnaround
ASHJ A [9] 4 weeks
Special instructions
[9] Clinical history must be provided.

 

Ashkenazi Breast Cancer Screen – 3 common mutations

Code Sample Reqs Turnaround
GENE Requires patient informed consent A [9][11] 4 weeks
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.

 

Ataxia/Episodic Ataxia Disorders NGS Panel – full sequencing across 89 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Auditory Neuropathy NGS Panel – full sequencing DFNB59 + DIAPH3 + OTOF genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Autoinflammation/Periodic Fever NGS Panel – full sequencing across 31 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Azoospermia – karyotype + cystic fibrosis screen + polyT(5T) + Y deletions

Code Sample Reqs Turnaround
GRP A H [9] 10-15 days
Special instructions
[9] Clinical history must be provided.

 

Bardet-Biedl Syndrome NGS Panel – full sequencing across 21 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Bartter/Gitelman Syndrome NGS Panel – full sequencing across 9 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Batten Disease (Neuronal Ceroid Lipofuscinosis) NGS Panel – full sequencing across 13 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

BCR/ABL (Chronic Myeloid Leukemia) Diagnosis – Philadelphia chromosome (9:22 translocation) analysis + FISH studies

Code Sample Reqs Turnaround
CBMA A H [9] 2-4 weeks
Special instructions
[9] Clinical history must be provided.

 

BCR/ABL Quantitative – fusion gene sizes p190 + p210 – MUST arrive in the laboratory within 36 hours, before 12pm on Fridays

Code Sample Reqs Turnaround
GENE A A A [9] 10 days
Special instructions
[9] Clinical history must be provided.

 

Becker Muscular Dystrophy – deletions/duplications

Code Sample Reqs Turnaround
DND A [9] 10 days
Special instructions
[9] Clinical history must be provided.

 

Beckwith-Wiedemann Syndrome – methylation studies on 11p15 imprinting domains KvDMR + H19

Code Sample Reqs Turnaround
GENE A [9] 4 weeks
Special instructions
[9] Clinical history must be provided.

 

Behcet's Disease – HLA Tissue Typing B*51

Code Sample Reqs Turnaround
B51 A [9] 10 days
Special instructions
[9] Clinical history must be provided.

 

Beta Thalassaemia – beta-globin gene sequencing

Code Sample Reqs Turnaround
GENE A [9] 4 weeks
Special instructions
[9] Clinical history must be provided.

 

Bloom Syndrome – BLM gene sequencing

Code Sample Reqs Turnaround
GENE A [9] 4 weeks
Special instructions
[9] Clinical history must be provided.

 

BOBs rapid chromosome analysis

Code Sample Reqs Turnaround
 
Special instructions
&nbps;

 

Branchiootorenal (BOR) Spectrum Disorders NGS Panel – full sequencing EYA1 + SIX1 + SIX5 genes

Code Sample Reqs Turnaround
GENE A A [9] 8 weeks
Special instructions
[9] Clinical history must be provided.

 

Breast Cancer NGS Panel – full sequencing across 14 genes + deletions/duplications

Code Sample Reqs Turnaround
GENE Requires patient informed consent A A [9][11] 4 weeks
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.

 

Breast Cancer Ashkenazi Screen – 3 common mutations

Code Sample Reqs Turnaround
GENE Requires patient informed consent A [9][11] 4 weeks
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.

 

Brugada Syndrome NGS Panel – full sequencing across 15 genes

Code Sample Reqs Turnaround
GENE A A [9] 4 weeks
Special instructions
[9] Clinical history must be provided.

 

Burkitt Lymphoma NGS Panel – full sequencing CCND3 + GNA13 + ID3 + MYC + TP53 genes

Code Sample Reqs Turnaround
GENE Requires patient informed consent A A [9][11] 8 weeks
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.