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 (known familial variants)

Bleeding and Platelet Gene Panel (unknown familial variants)

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

Calreticulin – CALR exon 9 variant screen

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

Harmony® Prenatal Test (Non-Invasive Prenatal Testing) – common aneuploidy screening from maternal blood

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

JAK2 – exon 12 sequencing (rare variants)

JAK2 V617F genotyping assay

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

KRAS/NRAS screening assay

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

MPL exon 10 analysis

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 – 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

NPM1 mutascreen assay

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 (known familial variants)

Thrombosis Gene Panel (unknown familial variants)

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®