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- 1p36 Deletion Syndrome – karyoty...
- 21-Hydroxylase Deficiency (Conge...
- 22q11 & 10p14 deletion (Di Georg...
- 22q11 & 10p14 deletion (Di Georg...
- Achromatopsia NGS Panel – full g...
- Aicardi-Goutiares Syndrome NGS P...
- Alagille Syndrome NGS Panel – fu...
- ALL Genome profile
- Alpha Fetoprotein on Amniotic fluid
- Alpha Thalassaemia – multiplex P...
- Alpha Thalassaemia – multiplex P...
- Alpha-1 Antitrypsin Genotype – P...
- Alport Syndrome NGS Panel – full...
- AML/ALL Molecular MRD – NPM1, PM...
- AmnioBOBs only – rapid aneuploid...
- Amniocentesis culture (karyotype...
- Amniocentesis – rapid BOBs aneup...
- Amniocentesis – rapid PCR diagno...
- AmnioPCR only – rapid common ane...
- Amylotrophic Lateral Sclerosis (...
- Androgen Insensitivity – AR gene...
- Aneurysm/Connective Tissue Disor...
- Angelman Syndrome (Primary Scree...
- Angelman/Rett Syndromes NGS Pane...
- Aniridia, Isolated – PAX6 gene s...
- Anophthalmia/Microphthalmia/Colo...
- Thrombophilia due to antithrombi...
- Aortopathy/Marfan Syndrome and T...
- Apert Syndrome – common FGFR2 va...
- Apolipoprotein E genotype – E2,...
- Array CGH (Comparative Genomic H...
- Ashkenazi Breast Cancer Screen –...
- Ashkenazi Jewish Carrier Screen
- Ataxia NGS Panel – full gene seq...
- Autoinflammation/Periodic Fever...
- Azoospermia – karyotype + cystic...
- B cell clonality assay (IgH and...
- Bardet-Biedl Syndrome NGS Panel...
- Batten Disease (Neuronal Ceroid...
- BCR-ABL diagnostic assay
- BCR/ABL Quantitative – fusion ge...
- Becker/Duchenne Muscular Dystro...
- Beckwith-Wiedemann Syndrome – me...
- Behcet’s Disease – HLA Tissue Ty...
- Beta Thalassaemia – beta-globin...
- Beta Thalassaemia – beta-globin...
- Inherited bleeding and platelet...
- Blood PCR for Chromosome 13, 18,...
- Breast Cancer Ashkenazi Screen –...
- Breast Cancer NGS Panel – full g...
- Breast Cancer – BRCA1 + BRCA2 on...
- Brugada Syndromea/Long-QT NGS Pa...
- C-KIT D816V variant by PCR for M...
- CADASIL – NOTCH3 gene sequencing
- CAKUT (Congenital Anomalies of K...
- Cancer, Comprehensive NGS Panel...
- Cardio-Facio-Cutaneous/Noonan/LE...
- Cardiomyopathy, Dilated NGS Pane...
- Cardiomyopathy, Hypertrophic NGS...
- Cardiovascular, Comprehensive NG...
- Carrier Screen (Ashkenazi Jewish)
- Carrier Screen (Ashkenazi Jewish...
- Carrier Screen (Pan-Ethnic)
- Carrier Screen (Pan-Ethnic) – Pa...
- Charcot-Marie-Tooth Syndrome NGS...
- Charcot-Marie-Tooth Type 1A – PM...
- CHARGE Syndrome – CHD7 gene sequ...
- Cholestasis, Intrahepatic NGS Pa...
- Chromosome Analysis (Amniocentes...
- Chromosome Analysis (Amniocentes...
- Chromosome Analysis (Amniocentes...
- Chromosome Analysis (Blood)
- Chromosome Analysis (Chorionic V...
- Chromosome Analysis (Chorionic V...
- Chromosome Analysis (Chorionic V...
- Chromosome Analysis (Product of...
- Chromosome Analysis (Products of...
- Chromosome Analysis (Solid Tissue)
- Chromosome banding karyotype
- Chromosome Y Deletion – AZFa, AZ...
- CLL Genome profile
- CLL Prognostification FISH screen
- Coeliac Disease – HLA DQ2/DQ8 ge...
- Colorectal Cancer NGS Panel – fu...
- Comparative Genomic Hybridisatio...
- Comprehensive Neuropathy NGS Pan...
- Congenital Absence of Vas Defere...
- Connective Tissue Disorders/Ehle...
- Cornelia de Lange Syndrome NGS P...
- Costello/Noonan/LEOPARD/Cardio-F...
- Craniosynostosis NGS Panel
- Cri du Chat Syndrome – BOBs (5 d...
- Cri du Chat Syndrome – BOBs only
- CVS PCR for common aneuploidies...
- CVSBOBs only – rapid aneuploidy...
- CVSBOBs – rapid BOBs aneuploidy...
- Cystic Fibrosis (139 common vari...
- Deafness NGS Panel – full gene s...
- Diabetes Panel – Obesity NGS
- DiGeorge Syndrome (22q11 & 10p14...
- DiGeorge Syndrome (22q11 & 10p14...
- Dihydropyrimidine Dehydrogenase...
- Dilated Cardiomyopathy NGS Panel...
- DNA Extraction & Storage – 3 yea...
- DNA Identity Profile – 15 STR ma...
- Duchenne Muscular Dystrophy – de...
- Duchenne Muscular Dystrophy – fu...
- DVT/Pre-travel Screen
- Ehlers-Danlos Syndrome/Aneurysm/...
- Endometrial Cancer NGS Panel – f...
- Epidermolysis Bullosa NGS Panel...
- Epilepsy, Adolescent/Adult Onset...
- Epilepsy, Comprehensive NGS Pane...
- Fabry Disease, X-linked – GLA ge...
- Facioscapulohumeral Muscular Dys...
- Factor II Prothrombin – G20210A...
- Factor V Leiden – G1691A variant
- Factor VIII (F8) Severe Haemophi...
- Familial Adenomatous Polyposis (...
- Familial Exudative Vitreoretinop...
- Familial Hypercholesterolaemia N...
- Familial Hypocalciuric Hypercalc...
- Familial Medullary Thyroid Carci...
- Fatty Acid Oxidation Disorders N...
- FLT3-ITD and FLT3-TKD screening...
- Fragile X Syndrome screen – FMR1...
- Friedreich Ataxia – frataxin gen...
- Gaucher disease – full gene sequ...
- Genetic Reproductive Profile (Male)
- Gilbert Syndrome – common UGT1A1...
- Glucose-6-Phosphate Dehydrogenas...
- Glycogen storage disease type 2...
- Haemochromatosis – HFE common va...
- Haemoglobin variants (alpha and...
- Haemophilia A (Severe) – Factor...
- Haemophilia A CVS Variant Analys...
- Haemophilia B CVS Variant Analys...
- Hearing Loss NGS Panel – full ge...
- Hereditary Cancer NGS Panel, Com...
- Hereditary Colon Cancer (Lynch S...
- Hereditary Neuropathy with Liabi...
- Hereditary Spastic Paraplegia NG...
- HFE gene (Haemochromatosis) – co...
- Hirschprung Disease NGS Panel –...
- 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...
- HLA Tissue Typing A/B/DRB1/3/4/5
- HLA Tissue Typing A/B/DRB1/3/4/5...
- HLA Tissue Typing B
- HLA Tissue Typing B*27 only
- HLA Tissue Typing B*51 (Behcet’s...
- HLA Tissue Typing B*57:01 high r...
- HLA Tissue Typing C
- HLA Tissue Typing Coeliac Diseas...
- HLA Tissue Typing DRB1/3/4/5
- HLA Tissue Typing DRB1/3/4/5/DQB...
- HLA Tissue Typing Narcolepsy – D...
- HPFH and δβthalassaemia – Gap PC...
- Huntington Disease – HD gene rep...
- Hyperinsulinism NGS Panel – full...
- Hyperparathyroidism – CASR seque...
- Identity Profile (DNA) – 15 STR...
- IDH1/2 screening assay
- IgVH mutation analysis for CLL
- Intellectual Disability NGS Pane...
- Iron Overload Profile
- Joubert/Meckel-Gruber Syndrome N...
- Kallmann Syndrome NGS Panel – fu...
- Kennedy Disease (Spinal Bulbar M...
- Kidney/Urinary Tract Cancer NGS...
- Krabbe Disease – GALC sequencing...
- Lactose Intolerance Gene
- Langer-Giedion Syndrome – BOBs (...
- Langer-Giedion Syndrome – BOBs only
- Leber’s Congenital Amaurosis NGS...
- Leber’s Hereditary Optic Neuropa...
- Leigh and Leigh Like Syndrome NG...
- LEOPARD/Noonan/Cardio-Facio-Cuta...
- Leukaemia (Rapid Acute) DNA and...
- Leukaemia Fusion Gene Screening...
- Leukaemia/Lymphoma RNA Sequencin...
- Li-Fraumeni Syndrome (p53-relate...
- Limb-Girdle Muscular Dystrophy (...
- Lissencephaly NGS Panel – full g...
- Loeys-Dietz Syndrome/Marfan Synd...
- Long-QT Syndrome / Brugada Syndr...
- Lowe (Oculocerebrorenal) Syndrom...
- Lung Disorders NGS Panel – full...
- Lynch Syndrome (HNPCC) NGS Panel...
- Lysosomal Storage Disorders NGS...
- Male Genetic Reproductive Profile
- Marfan Syndrome and Thoracic Aor...
- Marfan Syndrome – FBN1 sequencin...
- Maturity-Onset Diabetes of the Y...
- MDP Genome profile
- MDS Genome profile
- Meckel-Gruber/Joubert Syndrome N...
- Medium-Chain Acyl-CoA Dehydrogen...
- Melanoma Comprehensive Cancer NG...
- Microdeletion (common) Syndromes...
- Microphthalmia/Anophthalmia /Col...
- Miller-Dieker Syndrome – BOBs (5...
- Miller-Dieker Syndrome – BOBs only
- Mitochondrial genome sequencing
- Mitochondrial genome – full mito...
- Molecular Karyotyping
- Motor Neurone Disease (Amylotrop...
- MTHFR – common C677T + A1298C va...
- Mucopolysaccharidosis NGS Panel...
- Multiple Endocrine Neoplasia Typ...
- Multiple Endocrine Neoplasia Typ...
- Myeloid Gene Panel
- Myeloma FISH high risk markers s...
- Myeloma Genome profile
- Myeloproliferative Neoplasm NGS...
- Myotonic Dystrophy Type 1 – DMPK...
- Myotonic Dystrophy Type 2 (PROMM...
- Narcolepsy (HLA DQB1*06:02)
- Nephrotic Syndrome, Steroid-Resi...
- Nervous System/Brain Cancer NGS...
- Neurofibromatosis Type 1 – NF1 +...
- Neurofibromatosis Type 2 (Bilate...
- Neuronal Ceroid Lipofuscinosis (...
- Next-generation sequencing
- Non-Invasive Prenatal Testing –...
- Noonan Syndrome Prenatal Screeni...
- Noonan/LEOPARD/Cardio-Facio-Cuta...
- Nystagmus, X-linked Infantile –...
- Oculopharyngeal Muscular Dystrop...
- Optic Atrophy NGS Panel – full s...
- Osteogenesis Imperfecta NGS Pane...
- Ovarian Cancer NGS Panel – full...
- p53-related cancer predispositio...
- Pancreatic Cancer NGS Panel – fu...
- Paraganglioma/Pheochromocytoma N...
- Paternity Testing (postnatal and...
- Pelizaeus-Merzbacher Disease – P...
- Pendred Syndrome – SLC26A4 gene...
- Periodic Fever/Autoinflammation...
- Peutz-Jegher Syndrome – STK11 se...
- Phelan-McDermid Syndrome – karyo...
- Pheochromocytoma/Paraganglioma N...
- Pigmentation/Oculocutaneous Albi...
- POLG-Related Disorders – full PO...
- Polycystic Kidney/NGS Panel – fu...
- Pontocerebellar Hypoplasia NGS P...
- Postnatal array CGH
- Prader-Willi Syndrome (Primary S...
- Pre-Travel Screen (DVT)
- Prenatal array CGH
- Prenatal Diagnosis (BOBs + Culture)
- Primary Ciliary Dyskinesia (PCD)...
- Primary Hyperoxaluria Panel – fu...
- Product of Conception BOBs only...
- Product of Conception – rapid BO...
- Prostate Cancer NGS Panel – full...
- Thrombophilia due to protein C d...
- PTEN-related disorders (includin...
- QF-PCR rapid common aneuploidy s...
- Recurrent Miscarriage Profile (f...
- Renal Cysts and Diabetes (RCAD)...
- Renal/Urinary Tract Cancer NGS P...
- Retinal Detachment NGS Panel – f...
- Retinal Disorders NGS Panel – fu...
- Retinoblastoma – RB1 sequencing...
- Rett Syndrome (MECP2 gene only)...
- Rett/Angelman Syndromes NGS Pane...
- Short Stature – SHOX variant scr...
- Short-Chain Acyl-CoA Dehydrogena...
- Silver-Russell Syndrome – methyl...
- Single FISH test as per request
- Skeletal Dysplasia NGS Panel – f...
- Smith-Lemli-Opitz Syndrome – DHC...
- Smith-Magenis Syndrome – BOBs (5...
- Smith-Magenis Syndrome – BoBs only
- Sotos Syndrome (Cerebral Giganti...
- Spastic Paraplegia NGS Panel – f...
- Spinal Bulbar Muscular Atrophy (...
- Spinal Muscular Atrophy – SMN1 d...
- Spinocerebellar Ataxia NGS Panel...
- Spinocerebellar Ataxia – multipl...
- SRY (Sex-determining Region Y)
- Systemic mastocystosis – C-Kit c...
- T cell clonality assay (TCR beta...
- Tay Sachs Screen – common variants
- Thrombophilia with a likely mono...
- Thrombotic Risk Profile
- Thyroid Cancer NGS Panel – full...
- Torsion Dystonia (DYT1) – TOR1A...
- Treacher-Collins Syndrome NGS Pa...
- Tuberous Sclerosis – full TSC1 +...
- Urinary Tract/Renal Cancer NGS P...
- Usher Syndrome NGS Panel – full...
- Very Long-Chain Acyl-CoA Dehydro...
- Von Hippel-Lindau Syndrome – VHL...
- Wolf-Hirschhorn Syndrome – BOBs...
- Wolf-Hirschhorn Syndrome – BOBs...
- Xmn and gamma gene – gamma globi...
- Y chromosome microdeletions – AZ...
- Zellweger Syndrome/Peroxisomal D...
- Ziwig Endotest®
- Zygosity testing – comparative D...
- Chromosome Analysis (Stem Cells)...
- Cytochrome P450 2C19 (CYP2C19) g...
AML Genome profile
Profile contents
Chromosome, target FISH and gene variant screening
Sample Reqs
Bone marrow, peripheral blood
Turnaround
10 calendar days
Special instructions
Min of 10x106 cells
Additional information
- How to order a test
- HSL Genetics specimens
- HSL Genetics specialties
- HSL Genetics request procedures
- Guidance on specimen collection
- Specimen transport
- Sample rejection criteria
- Request Forms
Last-updated: 20/03/23