Services & Divisions
TDL Lab Shot 1
Home arrow Services & Divisions arrow TDL Genetics arrow Tests

Genetics A-Z Test Index: A-B

See the Lab Guide's Explanation of Sample Requirements for key to sample codes.

 

A-B | C-D | E-F | G-H | I-K | L-M | N-P | Q-S | T-U | V-Z

 

TestCodeSample Reqs TurnaroundSpecial
Instructions
1p36 Deletion Syndrome – MLPA only MRML A 10 days 9
21-Hydroxylase Deficiency (Congenital Adrenal Hyperplasia) – 7 mutations + deletions/duplications GENE 2xA 8 weeks 9,11
22q11 deletion (DiGeorge Syndrome) – karyotype + FISH KARY, FISH H 12-17 days 9
22q11 deletions (DiGeorge Syndrome) – MLPA only MRML A 10 days 9
5’Fluorouracil Toxicity (DPD deficiency) – common mutation (IVS14+1G>A) 5FU A 5 days 9
5’Fluorouracil Toxicity (DPD deficiency) – rare mutations GENE 2xA 3 weeks 9,11
Achondroplasia – 2 common mutations in FGFR3 (c.1138G>A + c.1138G>C) ACHP A 5 days 9
Acoustic Neuroma (NF2) – sequencing + deletions/duplications GENE 2xA 8 weeks 9,11
Alpers Syndrome – 3 common POLG mutations (p.A467T + p.W748S + p.G848S) GENE A 4 weeks 9,11
Alpha 1 Antitrypsin genotype – PI*M, PI*S, PI*Z ATPH A 5 days 9
Alpha Fetoprotein on Amniotic fluid AFPA AF 5-10 days 9
Alpha Thalassaemia – multiplex PCR for common large deletions GENE 2xA 3 weeks 9,11
Alpha Thalassaemia – alpha-globin sequencing GENE 2xA 6 weeks 9,11
Amnio PCR only – trisomy analysis by QF-PCR APC AF 1-2 days 9
Amniocentesis culture (karyotype) ACUL AF 10-15 days 9
Androgen Insensitivity – AR sequencing + deletions/duplications GENE 2xA 8 weeks 9,11
Angelman Syndrome (Primary Screen) – methylation PCR PWAM A 5 days 9
Angelman Syndrome – UBE3A hotspot sequencing GENE 2xA 8 weeks 9,11
Angelman Syndrome – karyotype + FISH KARY, FISH H 12-17 days 9
Angelman Syndrome – UPD 15 (parents and child) UPD A/AF 10 days 9,12
Aniridia Tier 1 – PAX6 sequencing GENE 2xA 10 weeks 9,11
Aniridia Tier 2 – PAX6 deletions 4 weeks
Apo E genotyping by PCR – E2, E3, E4 APEG A 5 days 9
Array CGH (Comparative Genomic Hybridisation) GENE 2xA 3 months 9,11
Ashkenazi Jewish Array – 77 mutations, 22 genes GENE 2xA 12 weeks 9,11
Ashkenazi Breast Cancer Screen – 3 common mutations GENE A 4 weeks 9,11
Ashkenazi Jewish Carrier Screen ASHJ A 5 days 9
Azoospermia – Y deletion + karyotype + cystic fibrosis screen + polyT CAVD 2xA, H 10-15 days 9
Bannayan-Riley-Ruvalcaba Syndrome (BRRS) – PTEN sequencing + deletions/duplications GENE 2xA 4 weeks 9,11
BCR/ABL (Chronic Myeloid Leukemia) – fusion gene PCR + Philidelphia chromosome (9:22 translocation) analysis BABL Contact Lab 10 days
Becker Muscular Dystrophy – deletions/duplications DND A 10 days 9,11
Beckwith-Wiedemann Syndrome – methylation studies on 11p15 imprinting domains KvDMR + H19 GENE 2xA 4 weeks 9,11
Beta Thalassaemia – beta-globin sequencing BGS 2xA 6 weeks 9,11
Bloom Syndrome – common c.2207-12 deletion BLOM A 5 days 9
Breast Cancer – BRCA1 and BRCA2 full sequencing + deletions/duplications BRCA 2xA 6 weeks 9,11
Breast Cancer Ashkenazi Screen – 3 common mutations Contact consultant clinical geneticist
GENE A 4 weeks 9,11