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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) – 8 mutations screened

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 this guide.

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.

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.

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-Goutières Syndrome NGS Panel – full sequencing across 6 genes

Code

Sample Reqs

Turnaround

GENE

A A  [9]

6 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]

6 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 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.

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.

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 31 genes

Code

Sample Reqs

Turnaround

GENE 

A A  [9]

6 weeks

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 culture (karyotype) only

Code

Sample Reqs

Turnaround

ACUL 

AF  [9]

10-15 days

Special instructions

[9] Clinical history must be provided.

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

Code

Sample Reqs

Turnaround

ABK 

AF  [9]

5-15 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.

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.

Amylotrophic Lateral Sclerosis (Motor Neurone Disease) NGS Panel – full sequencing across 43 genes

Code

Sample Reqs

Turnaround

GENE

A A  [9]

6 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 30 genes

Code

Sample Reqs

Turnaround

GENE 

A A  [9]

6 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]

6 weeks

Special instructions

[9] Clinical history must be provided.

Antithrombin Deficiency – SERPINC1 Gene Variant Analysis (Unknown Genotype)

Code

Sample Reqs

Turnaround

ATMA

A A  (Whole blood 10ml)  [40]

12 weeks

Special instructions

[40] Informed Consent is required for these tests.

Antithrombin Deficiency – SERPINC1 Gene Variant Analysis (Known Genotype)

Code

Sample Reqs

Turnaround

ATMA

A A  (Whole blood 10ml)  [40]

6 weeks

Special instructions

[40] Informed Consent is required for these tests.

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 46 genes + deletions/duplications

Code

Sample Reqs

Turnaround

GENE

A 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 this guide.

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.

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.

B cell clonality assay (IgH and IgK)

Code

Sample Reqs

Turnaround

IGHA

A or [FFPE]

2 weeks

Special instructions

 

Bardet-Biedl Syndrome NGS Panel – full sequencing across 24 genes

Code

Sample Reqs

Turnaround

GENE

A A  [9]

6 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]

6 weeks

Special instructions

[9] Clinical history must be provided.

BCR-ABL diagnostic assay 

Code

Sample Reqs

Turnaround

LMPX

A

2 weeks

Special instructions

 

BCR/ABL Quantitative MUST arrive in the laboratory within 48 hours, before 12pm on Fridays – fusion gene sizes p190 + p210 –

Code

Sample Reqs

Turnaround

BCRA

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.

Blood PCR for Chromosome 21

Code

Sample Reqs

Turnaround

BPCR

A

5 days

Special instructions

 

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 – see profiles

Code

Sample Reqs

Turnaround

 

 

 

Special instructions

 

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

Code

Sample Reqs

Turnaround

GENE 

A A  [9]

6 weeks

Special instructions

[9] Clinical history must be provided.

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 this guide.

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 this guide.

Brugada Syndrome /Long-QT NGS Panel  – full sequencing across 34 genes

Code

Sample Reqs

Turnaround

GENE 

A A  [9]

4 weeks

Special instructions

[9] Clinical history must be provided.