Site map | The Doctors Laboratory

1p36 Deletion Syndrome – karyotype + FISH

21-Hydroxylase Deficiency (Congenital Adrenal Hyperplasia)

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

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

Achromatopsia NGS Panel – full gene sequencing

Aicardi-Goutières Syndrome NGS Panel – full gene sequencing

Alagille Syndrome NGS Panel – full sequencing JAG1 + NOTCH2 genes

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

Alpha Fetoprotein on Amniotic fluid

Alpha Thalassaemia – multiplex PCR for common large deletions

Alport Syndrome NGS Panel – full sequencing with deletions and duplications

AML/ALL Molecular MRD – NPM1, PML-RARA, CBFB-MYH11, RUNX1-RUNX1T1, ETV6-RUNX1

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

Amniocentesis culture (karyotype) only

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

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

AmnioPCR only – rapid common aneuploidy diagnosis by QF-PCR

Amylotrophic Lateral Sclerosis (Motor Neurone Disease) NGS Panel – full gene sequencing

Androgen Insensitivity – AR gene sequencing

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

Angelman Syndrome (Primary Screen) – methylation PCR

Angelman/Rett Syndromes NGS Panel – full gene sequencing

Aniridia, Isolated – PAX6 gene sequencing + deletions/duplications

Anophthalmia/Microphthalmia/Coloboma NGS Panel – full gene sequencing

Antithrombin Deficiency – SERPINC1 Gene Variant Analysis (Known Genotype)

Antithrombin Deficiency – SERPINC1 Gene Variant Analysis (Unknown Genotype)

Aortopathy/Marfan Syndrome and Thoracic Aortic and Dissection NGS Panel – full gene sequencing

Apert Syndrome – common FGFR2 variants

Apolipoprotein E genotype – E2, E3, E4

Array CGH (Comparative Genomic Hybridisation)

Ashkenazi Breast Cancer Screen – common variants

Ashkenazi Jewish Carrier Screen

Ataxia NGS Panel – full gene sequencing

Autoinflammation/Periodic Fever NGS Panel – full gene sequencing

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

B cell clonality assay (IgH and IgK)

Bardet-Biedl Syndrome NGS Panel – full gene sequencing

Batten Disease (Neuronal Ceroid Lipofuscinosis) NGS Panel – full gene sequencing

BCR-ABL Diagnostic Assay

BCR/ABL Quantitative – fusion gene sizes p190 + p210

Becker/Duchenne Muscular Dystrophy – deletions/duplications

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

Behcet’s Disease – HLA Tissue Typing B*51

Beta Thalassaemia – beta-globin gene sequencing

Bleeding and Platelet Gene Panel

Blood PCR for Chromosome 13, 18, 21 and sex chromosomes

Breast Cancer Ashkenazi Screen – common variants

Breast Cancer NGS Panel – full gene sequencing

Breast Cancer – BRCA1 + BRCA2 only gene sequencing + deletions/duplications

Brugada Syndrome/Long-QT NGS Panel – full gene sequencing

C-KIT D816V variant by PCR for Mastocytosis

CADASIL – NOTCH3 gene sequencing

CAKUT (Congenital Anomalies of Kidney & Urinary Tract) NGS Panel – full gene sequencing

Cancer, Comprehensive NGS Panel – full gene sequencing + deletions/duplications

Cardio-Facio-Cutaneous/Noonan/LEOPARD/Costello Syndromes NGS Panel – full gene sequencing

Cardiovascular, Comprehensive NGS Panel – full gene sequencing + deletions/duplications

Cardiomyopathy, Dilated NGS Panel – full gene sequencing + deletions/duplications

Cardiomyopathy, Hypertrophic NGS Panel – full gene sequencing + deletions/duplications

Carrier Screen (Ashkenazi Jewish)

Charcot-Marie-Tooth Syndrome NGS Panel – full gene sequencing

Charcot-Marie-Tooth Type 1A – PMP22 duplications

CHARGE Syndrome – CHD7 gene sequencing

Chediak-Higashi Syndrome – LYST gene sequencing

Cholestasis, Intrahepatic NGS Panel – full gene sequencing

Chromosome Analysis (Amniocentesis) – culture only

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

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

Chromosome Analysis (Blood)

Chromosome Analysis (Chorionic Villus) – culture only

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

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

Chromosome Analysis (Products of Conception)

Chromosome Analysis (Products of Conception) – BOBs rapid aneuploidy diagnosis for all chromosomes (10 days) + culture (25 days)

Chromosome Analysis (Solid Tissue)

Chromosome Analysis (Stem Cells) - Rapid BOBs aneuploidy DNA analysis for all chromosomes (5 days)

Chromosome Y Deletion – AZFa, AZFb, AZFc + SRY

Coeliac Disease – HLA DQ2/DQ8 Genotype

Colorectal Cancer NGS Panel – full gene sequencing + deletions/duplications

Comparative Genomic Hybridisation (Array CGH)

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

Congenital Myopathy NGS Panel – full gene sequencing

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

Cornelia de Lange Syndrome NGS Panel – full gene sequencing

Costello/Noonan/LEOPARD/Cardio-Facio-Cutaneous Syndromes NGS Panel – full gene sequencing

Craniosynostosis NGS Panel

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

Cri du Chat Syndrome – BOBs only

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

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

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

Cystic Fibrosis (139 common variants) – reflex to Poly T when required

Deafness NGS Panel – full gene sequencing

Diabetes – Obesity NGS Panel

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

DiGeorge Syndrome (22q11 & 10p14) – BOBs only

Dihydropyrimidine Dehydrogenase deficiency screening (Fluoropyrimidine Toxicity)

Dilated Cardiomyopathy NGS Panel – full gene sequencing + deletions/duplications

DNA Extraction & Storage – 3 years (longer upon request)

DNA Identity Profile – 15 STR markers

Duchenne Muscular Dystrophy – deletions/duplications only

Duchenne Muscular Dystrophy – full sequencing DMD1 gene

DVT/Pre-travel Screen

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

Endometrial Cancer NGS Panel – full gene sequencing + deletions/duplications

Epidermolysis Bullosa NGS Panel – full sequencing

Epilepsy, Adolescent/Adult Onset Panel – sequencing + deletions/duplications

Epilepsy, Comprehensive NGS Panel – full sequencing + deletions/duplications

Fabry Disease, X-linked – GLA gene sequencing

Facioscapulohumeral Muscular Dystropy (FSHD) – D4Z4 repeat deletion

Factor II Prothrombin – G20210A Variant

Factor V Leiden – G1691A Variant

Factor VII Deficiency – F7 Gene Variant Analysis (Known Genotype)

Factor VII Deficiency – F7 Gene Variant Analysis (Unknown Genotype)

Factor X Deficiency – F10 Gene Variant Analysis (Known Genotype)

Factor X Deficiency – F10 Gene Variant Analysis (Unknown Genotype)

Factor XI Deficiency – F11 Gene Variant Analysis (Known Genotype)

Factor XI Deficiency – F11 Gene Variant Analysis (Unknown Genotype)

Familial Adenomatous Polyposis (FAP) – full gene sequencing + deletions/duplications

Familial Exudative Vitreoretinopathy (FEVR) NGS Panel – full gene sequencing

Familial Hypercholesterolaemia NGS panel

Familial Hypocalciuric Hypercalcaemia (FHH) Panel – full sequencing CASR + AP2S1 + GNA11 genes

Familial Medullary Thyroid Carcinoma – hotspot sequencing RET gene

Fatty Acid Oxidation Deficiency NGS Panel – full gene sequencing

FLT3-ITD and FLT3-TKD screening assay

Fragile X Syndrome screen – FMR1 repeat analysis PCR

Friedreich Ataxia – frataxin gene repeat analysis

Gaucher Disease full gene sequencing

Genetic Reproductive Profile (Male)

Gilbert Syndrome – common UGT1A1 repeat variation

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – full G6PD gene sequencing

Glycogen storage disease type 2 (Pompe) variant analysis

Haemochromatosis – HFE common variants C282Y + H63D

Haemophilia A CVS Variant Analysis (Known Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of known variants for F8 gene

Haemophilia A Variant Analysis (Known Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of known variants for F8 gene

Haemophilia A Variant Analysis (Unknown Genotype) – F8 Intron 22 Inversion, F8 Intron 1 Inversion, Sequence analysis of unknown variants for F8 gene

Haemophilia B CVS Variant Analysis (Known Genotype) – Sequence analysis of known variants for F9

Haemophilia B Variant Analysis (Known Genotype) – Sequence analysis of known variants for F9

Haemophilia B Variant Analysis (Unknown Genotype) – Sequence analysis of unknown variants for F9

Hearing Loss NGS Panel – full gene sequencing

Hereditary Cancer NGS Panel, Comprehensive – full gene sequencing + deletions/duplications

Hereditary Neuropathy NGS Panel – full gene sequencing

Hereditary Neuropathy with Liability to Pressure Palsy – PMP22 deletion analysis

Hereditary Colon Cancer (Lynch Syndrome) NGS Panel – full gene sequencing + deletions/duplications

Hereditary Spastic Paraplegia Comprehensive NGS Panel – full gene sequencing + deletions/duplications

HFE gene (Haemochromatosis) – common variants C282Y + H63D

Hirschprung Disease NGS Panel – full sequencing with deletions and duplications

HLA Tissue Typing A

HLA Tissue Typing A+B

HLA Tissue Typing A+B+C (Class I)

HLA Tissue Typing A/B/C/DRB1/3/4/5/DQB1 (Class I &II)

HLA Tissue Typing A/B/DRB1/3/4/5

HLA Tissue Typing A/B/DRB1/3/4/5/DQB1

HLA Tissue Typing B

HLA Tissue Typing B*27 only

HLA Tissue Typing B*51 (Behcet’s Disease)

HLA Tissue Typing B*57:01 high resolution

HLA Tissue Typing C

HLA Tissue Typing Coeliac Disease – DQ2/DQ8

HLA Tissue Typing DRB1/3/4/5

HLA Tissue Typing DRB1/3/4/5/DQB1 (Class II)

HLA Tissue Typing Narcolepsy – DQB1*06:02

Huntington Disease – HD gene repeat analysis PCR

Hyperinsulinism NGS Panel – full gene sequencing

Hyperparathyroidism – CASR sequencing

Identity Profile (DNA) – 15 STR markers

IDH1/2 screening assay

IgVH variant analysis for CLL

Intellectual Disability NGS Panel – full gene sequencing + deletions/duplications

Iron Overload Profile

Joubert/Meckel-Gruber Syndrome NGS Panel – full gene sequencing

Kallmann Syndrome NGS Panel – full gene sequencing

Kennedy Disease (Spinal Bulbar Muscular Atrophy) – AR repeat expansion

Kidney/Urinary Tract Comprehensive Cancer NGS Panel – full gene sequencing + deletions/duplications

Krabbe Disease – GALC sequencing + 502T/del common deletion

Lactose Intolerance Gene

Langer-Giedion Syndrome – BOBs (5 days) + karyotype (15 days)

Langer-Giedion Syndrome – BOBs only

Leber’s Hereditary Optic Neuropathy – m.3460G>A + m.11778G>A + m.14484T>C common variants

Leber’s Congenital Amaurosis NGS Panel – full gene sequencing

Leigh and Leigh Like Syndrome NGS Panel – full gene sequencing + deletions/duplications

LEOPARD/Noonan/Cardio-Facio-Cutaneous/Costello Syndromes NGS Panel – full gene sequencing

Leukaemia Fusion Gene Screening Assay (Q30)

Li-Fraumeni Syndrome (p53-related cancer predisposition) – TP53 sequencing + MLPA

Limb-Girdle Muscular Dystrophy (LGMD) NGS Panel – full gene sequencing

Lissencephaly NGS Panel – full gene sequencing

Loeys-Dietz Syndrome/Marfan Syndrome/Aortic Aneurysm and Dissection NGS Panel – full gene sequencing

Long-QT Syndrome/Brugada Syndrome – full gene sequencing

Lowe (Oculocerebrorenal) Syndrome – OCRL sequencing

Lung Disorders NGS Panel – full gene sequencing

Lynch Syndrome (HNPCC) NGS Panel – full gene sequencing + deletions/duplications

Male Genetic Reproductive Profile

Marfan Syndrome – FBN1 sequencing + deletions/duplications

Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel – full gene sequencing

Maturity-Onset Diabetes of the Young (MODY) Diabetes

Meckel-Gruber/Joubert Syndrome NGS Panel – full gene sequencing

Medium-Chain Acyl-CoA Dehydrogenase Deficiency – ACADM sequencing

Melanoma Comprehensive Cancer NGS Panel – full gene sequencing + deletions/duplications

Microdeletion (common) Syndromes – BOBs only

Microphthalmia/Anophthalmia/Coloboma NGS Panel – full gene sequencing

Miller-Dieker Syndrome – BOBs (5 days) + karyotype (15 days)

Miller-Dieker Syndrome – BOBs only

Mitochondrial genome sequencing

Mitochondrial genome – full mitochondrial DNA sequencing + deletions

Motor Neurone Disease (Amylotrophic Lateral Sclerosis) NGS Panel – full gene sequencing

MTHFR – common C677T + A1298C variants

Mucopolysaccharidosis NGS Panel – full gene sequencing

Multiple Endocrine Neoplasia Type 1 – full MEN1 sequencing

Multiple Endocrine Neoplasia Type 2 – RET gene hotspot sequencing

Myotonic Dystrophy Type 1 – DMPK repeat PCR

Myotonic Dystrophy Type 2 (PROMM) – ZNF9 repeat PCR

Narcolepsy (HLA DQB1*06:02)

Nephrotic Syndrome, Steroid-Resistant NGS Panel – full gene sequencing

Nervous System/Brain Cancer NGS Panel – full gene sequencing + deletions/duplications

Neurofibromatosis Type 1 – NF1 + SPRED1 sequencing + deletions/duplications

Neurofibromatosis Type 2 (Bilateral Acoustic) – NF2 sequencing + deletions/duplications

Neuronal Ceroid Lipofuscinosis (Batten Disease) NGS Panel – full gene sequencing

Non-Invasive Prenatal Testing (NIPT) – common aneuploidy screening from maternal blood

Noonan Syndrome Prenatal Screening – PTPN11 exons 3 & 8 only

Noonan/LEOPARD/Cardio-Facio-Cutaneous/Costello Syndromes NGS Panel – full gene sequencing

Nystagmus, X-linked Infantile – FRMD7 gene sequencing

Oculopharyngeal Muscular Dystrophy – PABPN1 repeat analysis

Optic Atrophy NGS Panel – full sequencing OPA1 + OPA3 genes

Osteogenesis Imperfecta NGS Panel – full gene sequencing

Ovarian Cancer NGS Panel – full gene sequencing + deletions/duplications

p53-related cancer predisposition (Li-Fraumeni Syndrome) – TP53 sequencing + MLPA

Pancreatic Cancer NGS Panel – full gene sequencing + deletions/duplications

Paraganglioma/Pheochromocytoma NGS Panel – full gene sequencing + deletions/duplications

Paternity Testing (postnatal and prenatal) – sample required from each person being tested (3 people)

Pelizaeus-Merzbacher Disease – PLP1 sequencing + deletions/duplications

Pendred Syndrome – SLC26A4 gene sequencing

Periodic Fever/Autoinflammation NGS Panel – full gene sequencing

Peutz-Jegher Syndrome – STK11 sequencing + deletions/duplications

Phelan-McDermid Syndrome – karyotype + FISH

Pheochromocytoma/Paraganglioma NGS Panel – full gene sequencing + deletions/duplications

POLG-Related Disorders – full POLG sequencing + deletions and duplications

Polycystic Kidney/NGS Panel – full gene sequencing

Pontocerebellar Hypoplasia NGS Panel – full gene sequencing

Postnatal array CGH

Prader-Willi Syndrome (Primary Screen) – methylation PCR

Pre-Travel Screen (DVT)

Prenatal array CGH

Prenatal Diagnosis (BOBs + Culture)

Primary Ciliary Dyskinesia (PCD) NGS Panel – full gene sequencing

Primary Hyperoxaluria Panel – full gene sequencing + CNV

Products of Conception (BOBs + Culture)

Products of Conception BOBs only – rapid aneuploidy diagnosis for all chromosomes

Products of Conception – rapid BOBs aneuploidy diagnosis for all chromosomes (10 days) + culture (25 days)

Prostate Cancer NGS Panel – full sequencing + deletions/duplications

Protein C Deficiency – PROC Gene Variant Analysis (Known Genotype)

Protein C Deficiency – PROC Gene Variant Analysis (Unknown Genotype)

PTEN-related disorders (including Bannayan-Riley-Ruvalcaba, Cowden & Proteus Syndromes) – sequencing + deletions/duplications

QF-PCR rapid common aneuploidy screen

Recurrent Miscarriage Profile (female)

Renal Cysts and Diabetes (RCAD) – HNF-1β sequencing + deletions/duplications

Renal/Urinary Tract Cancer NGS Panel – full gene sequencing + deletions/duplications

Retinal Disorders NGS Panel – full gene sequencing

Retinoblastoma – RB1 sequencing + deletions/duplications

Rett Syndrome (MECP2 gene only) – full sequencing + deletions/duplications

Rett/Angelman Syndromes NGS Panel – full gene sequencing

Short Stature – SHOX variant screening + deletions/duplications

Short-Chain Acyl-CoA Dehydrogenase Deficiency – ACADS sequencing

Silver-Russell Syndrome – methylation studies on 11p15 imprinting domains KvDMR + H19

Skeletal Dysplasia NGS Panel – full gene sequencing

Smith-Lemli-Opitz Syndrome – DHCR7 sequencing

Smith-Magenis Syndrome – BOBs (5 days) + karyotype (15 days)

Smith-Magenis Syndrome – BoBs only

Sotos Syndrome (Cerebral Gigantism) – NSD1 sequencing + deletions/duplications

Spastic Paraplegia NGS Panel – full gene sequencing + deletions/duplications + mitochondrial DNA

Spinal Bulbar Muscular Atrophy (Kennedy Disease) – AR repeat analysis

Spinal Muscular Atrophy – SMN1 deletions/duplications

Spinocerebellar Ataxia – multiplex SCA1+2+3+6+7+17 common repeat expansions

SRY (Sex-determining Region Y)

Systemic mastocystosis – C-Kit common variant (KIT D816V)

T cell clonality assay (TCR beta and TCR gamma)

Tay Sachs Screen – common variants

Thrombotic Risk Profile

Thyroid Cancer NGS Panel – full gene sequencing + deletions/duplications

Torsion Dystonia (DYT1) – TOR1A common variant c.904-906delGAG

Treacher-Collins Syndrome NGS Panel – full sequencing POLR1C + POLR1D + TCOF1

Tuberous Sclerosis – full TSC1 + TSC2 gene sequencing

Urinary Tract/Renal Cancer NGS Panel – full gene sequencing + deletions/duplications

Usher Syndrome NGS Panel – full gene sequencing

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency – ACADVL sequencing

Von Hippel-Lindau Syndrome – VHL sequencing + deletions/duplications

Von Willebrands Disease – Type 2 (Ex28) Variant Analysis (VWF) (Known Genotype)

Von Willebrands Disease – Type 2 (Ex28) Variant Analysis (VWF) (Unknown Genotype)

Von Willebrands Disease – Type 2 VWD Variant Analysis (VWF) (Known Genotype)

Von Willebrands Disease – Type 2 VWD Variant Analysis (VWF) (Unknown Genotype)

Von Willebrands Disease – Type 2N Variant Analysis (VWF) (Known Genotype)

Von Willebrands Disease – Type 2N Variant Analysis (VWF) (Unknown Genotype)

Wolf-Hirschhorn Syndrome – BOBs (5 days) + karyotype (15 days)

Wolf-Hirschhorn Syndrome – BOBs only

Y chromosome microdeletions – AZFa + AZFb + AZFc + SRY

Zellweger Syndrome/Peroxisomal Disorders NGS Panel – full gene sequencing

Zygosity testing – comparative DNA profile

Thrombosis Gene Panel

Carrier Screen (Ashkenazi Jewish) – Partnered Report

Carrier Screen (Pan-Ethnic)

Carrier Screen (Pan-Ethnic) – Partnered Report

Connexin-30 Associated Deafness – full sequence of the GJB6 gene

Cholestasis NGS Panel – full sequencing

Comprehensive Neuropathy NGS Panel – full gene sequencing

Leukaemia (Rapid Acute) DNA and RNA NGS Panel

Leukaemia/Lymphoma RNA Sequencing (Fusion Gene and SNV/Indel) Panel

Lysosomal Storage Disorders NGS Panel – full gene sequencing

Myeloid Gene Panel

Myeloproliferative Neoplasm NGS Screening Panel

Ziwig Endotest®

Cytochrome P450 2C19 (CYP2C19) genotyping