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Posts
- IVDR: the new era of diagnostic services (17. April 2024)
- Paired DNA-RNA testing enhances variant detection in colorectal cancer patients (10. April 2024)
- ASCO-SSO new guidelines for germline testing in patients with hereditary breast cancer (27. March 2024)
- Endometriosis: A majorly underdiagnosed condition leaving women experiencing pain “worse than childbirth” (20. March 2024)
- Rare diseases revealed: Explaining, understanding, and raising awareness on rare disease day (29. February 2024)
- Web’s most frequently asked questions about cancer (21. February 2024)
- Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss (7. February 2024)
- What is cancer? (31. January 2024)
- Mapping placental signals: Potential to predict premature birth (24. January 2024)
- A new genome screening study reveals cancer genes and genomic signatures that affect patient outcomes and can help in personalized cancer therapy (18. January 2024)
- Women in science. An interview (10. January 2024)
- Non-Invasive Prenatal Testing (NIPT): Current guidelines (27. December 2023)
- Medicover Genetics 1st DNA Essay Competition Winners (20. December 2023)
- How much of our voice and speech is genetic? (13. December 2023)
- Side effects of the cold: how low temperatures can make some conditions worse (7. December 2023)
- Movember is all about men’s health (29. November 2023)
- Living with HIV. An interview (22. November 2023)
- Living with diabetes. An interview (15. November 2023)
- Diabetes: An ancient disease that is more relevant than ever today (1. November 2023)
- Can a genetic change make you superhuman? (25. October 2023)
- Mitochondrial transfer: Impact on cancer and immunity (18. October 2023)
- Sleep apnea: is this common sleep disorder hereditary? (11. October 2023)
- Liquid biopsy: a game-changer for cancer diagnosis and therapy (4. October 2023)
- Fetal heart development and congenital heart defects (28. September 2023)
- The impact of travel on gut health and antibiotic resistance (20. September 2023)
- Medicover Genetics posters at ESHG 2023 (13. September 2023)
- Vitamin D: The sunshine vitamin (6. September 2023)
- Spinal muscular atrophy: A race against the clock (30. August 2023)
- Unraveling variant misclassification: Insights from ClinVar and HGMD databases (23. August 2023)
- Clinically significant prognostic and therapeutic pathogenic variants identified in advanced prostate cancer patients (16. August 2023)
- Healthy eating during pregnancy (14. August 2023)
- Sweating: Is excessive sweating genetic? (9. August 2023)
- Pancreatic cancer—The silent killer (2. August 2023)
- Who Is The Father of Genetics? (26. July 2023)
- Decoding genetic variants: ClinGen's expert recommendations for evaluating splicing variant data (19. July 2023)
- Familial Mediterranean fever: a borderless disease (13. July 2023)
- Your blood is gold! Learn about components of blood and symptoms and treatment of blood disorders (5. July 2023)
- Phenylketonuria: symptoms, treatment, diagnosis and genetics (28. June 2023)
- Cancer and diet: How does everyday diet affect your risk of cancer? (22. June 2023)
- Genetic causes of infertility (14. June 2023)
- Improved human pangenome identifies more genetic variations (7. June 2023)
- Rare diseases: Duchenne Muscular Dystrophy (24. May 2023)
- Facts about Florence Nightingale (17. May 2023)
- The genetics of hair loss: alopecia and more (3. May 2023)
- Depression linked to gut bacteria and blood molecules (26. April 2023)
- Are migraines genetic? What is a migraine, what are the symptoms and what are the causes? (19. April 2023)
- All about autism spectrum disorder: Understanding the causes, symptoms, and treatment (13. April 2023)
- Revolutionizing newborn care: Machine learning and whole-genome sequencing for early diagnosis of sick newborns (31. March 2023)
- Wisdom teeth and genetics: Why some people do not have wisdom teeth (22. March 2023)
- Understanding azoospermia, one of the most common causes of male infertility (15. March 2023)
- Women in genetics – a celebration of discoveries and contributions made by female scientists (8. March 2023)
- Whole-genome sequencing could help lower infant mortality rates (1. March 2023)
- Folic acid and pregnancy – preventing neural tube defects with supplements (22. February 2023)
- Genetic testing methods – types of tests used for molecular and cytogenetic testing (15. February 2023)
- The genetics of feeling cold - Do Inuit feel the cold differently to other people? (8. February 2023)
- Preeclampsia – diagnosis, symptoms, genetics, causes, and treatment (1. February 2023)
- Our microbiome is shaped by social contacts, potentially influencing health and disease susceptibility (25. January 2023)
- Melanoma (skin cancer) – symptoms, risk factors and genetics (18. January 2023)
- Causes of autosomal (trisomy 13, 18 and 21) and sex chromosome trisomies (trisomy X, Klinefelter syndrome) (11. January 2023)
- Genetic testing of thalassemia – carrier screening and NIPT (4. January 2023)
- Are food allergies genetic? How to test for the most common food allergies? (28. December 2022)
- What is polycystic ovary syndrome and how does it affect fertility? Causes, symptoms, treatment and genetic testing (14. December 2022)
- What is a genetic test - benefits, limitations & how to choose the right type (7. December 2022)
- A combination of genetic alterations makes melanoma immortal (30. November 2022)
- Seasonal affective disorder (seasonal depression) – symptoms, risk factors, causes and genetics (16. November 2022)
- Ancient viral DNA in the human genome guards against infections (2. November 2022)
- The genetics of height (26. October 2022)
- Porphyria: the facts behind the so-called vampire disease (19. October 2022)
- Genetic disorders: monogenic, polygenic and chromosomal disorders (12. October 2022)
- Modern humans generate more brain neurons than Neanderthals due to a single amino acid change in the protein TKTL1 (5. October 2022)
- New genetic etiology in teenage-onset colorectal cancer identified (28. September 2022)
- Two epigenetically distinct types of obesity identified (21. September 2022)
- Genetics of blood type: inheritance and compatibility (14. September 2022)
- Genetics can influence the time that ADHD is first diagnosed and its persistence into adulthood (7. September 2022)
- Medicover Genetics posters at ESHG 2022 (24. August 2022)
- Health risks for people with red hair (17. August 2022)
- Genetics of chimerism: being your own twin (10. August 2022)
- Patients with stomach and intestinal disorders may be at greater risk of developing Alzheimer’s disease (3. August 2022)
- Does hay fever have a genetic cause? (27. July 2022)
- All about Mendelian Inheritance (20. July 2022)
- Ehlers-Danlos syndrome (EDS): types, symptoms, causes and genetics (14. July 2022)
- Omicron subvariants can be more transmissible and more evasive to antibodies (6. July 2022)
- Red Hair: it’s in your genes (30. June 2022)
- Genome-wide association study (GWAS) identified 69 loci associated with beat synchronization (23. June 2022)
- Role of genetics in reproductive health (8. June 2022)
- Twins: from a genetic point of view (1. June 2022)
- How COVID-19 likely infects gastrointestinal tissue contributing to long-term infection of the gastrointestinal tract in long COVID (25. May 2022)
- Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters (18. May 2022)
- The origin of the words gene, genome and genetics (11. May 2022)
- What are neurodegenerative diseases? (4. May 2022)
- How COVID-19 breakthrough infection in vaccinated individuals leads to protection against various variants of concern and memory B cell formation (27. April 2022)
- It Is Not Carved in Stone - The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies (20. April 2022)
- What is Global Developmental Delay? The role of genetics in global developmental delay and intellectual disability (13. April 2022)
- Is Cancer Hereditary? (30. March 2022)
- What is a Rare Disease and what causes it? (29. March 2022)
- How COVID-19 is associated with changes in brain structure (17. March 2022)
- How COVID-19 increases the risk of cardiovascular problems (17. February 2022)
- Genetic Testing of Arrhythmias (27. January 2022)
- How a specific gene variant protects against severe COVID-19 infection (20. January 2022)
- Genetics of Arrhythmias (14. December 2021)
- Basics of Genetics (4. November 2021)
Pages
- Praxis Humangenetik (23. January 2024)
- Unser Labor (23. January 2024)
- Medicover Genetics Berlin (23. January 2024)
- Medlab 2024 (11. January 2024)
- Our editorial policy (23. November 2023)
- ESMO 2023 (16. October 2023)
- ESHRE 2023 (23. June 2023)
- Fimlab (5. June 2023)
- ESHG 2023 (2. June 2023)
- Why Genetic Testing (23. May 2023)
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- Brochures (24. March 2023)
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- Resources (4. March 2023)
- Glossary (11. September 2020)
- Partner with us (4. March 2023)
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- Technology Transfer (24. March 2023)
- TarCET IVD Kits (17. March 2023)
- Company (3. March 2023)
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- Contact us (4. March 2023)
- Accreditations (3. March 2023)
- Science (3. March 2023)
- About us (11. September 2020)
- ESHG (26. May 2022)
- Editorial team (30. March 2022)
- Blog (30. March 2022)
- Cookie Policy (2. November 2020)
- Panels (11. September 2020)
- Genes Syndromes (11. September 2020)
- How to order (11. September 2020)
- Neonatal Screening (22. March 2023)
- Pharmacogenetics (1. March 2023)
- Rare disease panels (5. October 2020)
- Cardiovascular Disorders (4. March 2023)
- Ventrilia Cardiovascular Tests (4. March 2023)
- Blood Disorders (5. October 2020)
- Comprehensive Metabolic Genetic Testing (17. March 2023)
- Cardiovascular Disorders (4. March 2023)
- Whole Exome Sequencing (5. October 2020)
- Reproductive health (5. October 2020)
- Infertility Testing (4. March 2023)
- Preimplantation Genetic Testing (4. March 2023)
- Rhesus Factor Test (12. July 2022)
- NIPT/VERAgene (19. January 2021)
- NIPT/VERACITY (19. January 2021)
- Oncology (11. September 2020)
- Liquid Biopsy (17. October 2023)
- Tumor Profile Cancer Panels (17. March 2023)
- ForeSENTIA Tumor Profile Tests (17. March 2023)
- Solid Tumor Histopathology Genetics Detect&Act (13. October 2021)
- Hereditary Cancer Panels (1. March 2023)
- PreSENTIA Hereditary Cancer (1. March 2023)
- Hereditary Cancer Panels Predict&Prevent (28. September 2020)
- Genetic Testing - Medicover Genetics (10. September 2020)
- Privacy policy (10. September 2020)
News Room
- Medicover Genetics expands network in Germany (30. January 2024)
- Medicover Genetics 1st DNA Essay Competition (20. December 2023)
- Medicover Genetics successfully renewed accreditation from College of American Pathologists (Dec 2023) (18. December 2023)
- Swedish Ambassador's Visit to Cyprus Highlights Medicover Genetics' Global Impact and Innovative Achievements (Dec 2023) (14. December 2023)
- Celebrating 25 Years of MVZ Martinsried's Innovation and Excellence (30. November 2023)
- Guiding Precision Medicine Strategies: NeoThetis Pan-Cancer Plus, New Liquid Biopsy Test for Therapy Selection (18. October 2023)
- Medicover Genetics attended ESHG 2023 in Glasgow (June 2023) (26. June 2023)
- Medicover Genetics and Fimlab Laboratories announce partnership to provide genetic testing services in Finland (26. June 2023)
- GENUSS DIGITAL 2023 - 18. Berliner Symposium Genetik und Schwangerschaft (Mar 1, 2023) (8. February 2023)
- Medicover wins Invest Cyprus International Investment Awards 2022 (Jul, 2022) (18. July 2022)
- VERACITY basic test is covered by the German insurance (Jul, 2022) (11. July 2022)
- Medicover Genetics attended the largest genetics conference in Europe (Jun, 2022) (6. July 2022)
- TEST & FLY CENTER and MUNICH AIRPORT LABORATORY accredited according to DIN EN ISO 15189 (Apr 11, 2022) (11. April 2022)
- The acquisition of NIPD Genetics is completed (Jan 18, 2022) (14. March 2022)
- Medicover Genetics - working together for the medicine of the future (Oct, 2021) (3. November 2021)
- Medicover Genetics and Damian Medical Centre working together to enhance genetic diagnostics (Sep, 2021) (3. November 2021)
- A digital experience: COVID-19 Test Centre opens at Munich Airport providing results within three to six hours (Nov 3, 2020) (3. November 2020)
- Medicover acquires leading genetics laboratory in Germany (Jan, 2019) (3. November 2020)
- Medicover Genetics partners with Illumina and Healthmetrix for large scale screening of Coronavirus SARS-CoV-2 (Jul 13, 2020) (29. October 2020)
- Medicover Genetics offers expanded access to genetic counseling through Telemedicine (Jul, 2020) (29. October 2020)
Products
- NOONAN SYNDROME (25. January 2024)
- THANATOPHORIC DYSPLASIA (25. January 2024)
- GITELMAN SYNDROME (25. January 2024)
- WAGNER SYNDROME (25. January 2024)
- EDWARDS SYNDROME (TRISOMY 18) (25. January 2024)
- SMITH-MAGENIS SYNDROME (17p11.2) (25. January 2024)
- COFFIN-SIRIS SYNDROME (25. January 2024)
- JACOBS SYNDROME (DOUBLE Y SYNDROME) (25. January 2024)
- BARDET-BIEDL SYNDROME (Core Panel) (25. January 2024)
- WOLF-HIRSCHHORN SYNDROME (4p16.3) (17. December 2023)
- NeoThetis PAN-CANCER PLUS PANEL (17. October 2023)
- WOLFRAM SYNDROME (9. June 2023)
- PSEUDOHYPOPARATHYROIDISM (9. June 2023)
- OSTEOPOROSIS (9. June 2023)
- HYPOPHOSPHATASIA (9. June 2023)
- HYPOPHOSPHATEMIA (9. June 2023)
- HYPOPARATHYROIDISM (9. June 2023)
- HYPOCALCIURIC HYPERCALCEMIA (FHH) (8. June 2023)
- NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM (NSHPT) (8. June 2023)
- DISORDERS OF SEX DEVELOPMENT (DSD) (8. June 2023)
- ALSTRÖM SYNDROME (7. June 2023)
- FERTILITY DISORDERS - CHROMOSOMAL CAUSES (7. June 2023)
- EVARTIA METABOLIC PANEL (7. April 2023)
- RODINIA THROMBOPHILIA & NAIT PANEL (29. March 2023)
- RODINIA MALE PANEL (29. March 2023)
- RODINIA FEMALE PANEL (29. March 2023)
- ForeSENTIA PIK3CA & AKT1 PANEL (28. March 2023)
- ForeSENTIA KRAS & NRAS PANEL (28. March 2023)
- ForeSENTIA IDH1 & IDH2 PANEL (28. March 2023)
- ForeSENTIA EGFR PANEL (28. March 2023)
- ForeSENTIA BRAF PANEL (28. March 2023)
- ForeSENTIA MELANOMA PANEL (28. March 2023)
- ForeSENTIA GLIOMA PANEL (28. March 2023)
- ForeSENTIA PROSTATE PANEL (28. March 2023)
- ForeSENTIA COLORECTAL PANEL (28. March 2023)
- ForeSENTIA BREAST-GYNECOLOGICAL PANEL (28. March 2023)
- ForeSENTIA LUNG (NSCLC) PANEL (28. March 2023)
- ForeSENTIA PAN-CANCER PANEL (28. March 2023)
- ForeSENTIA PAN-CANCER PLUS PANEL (28. March 2023)
- NeoThetis PROSTATE CANCER PANEL (27. March 2023)
- NeoThetis PANCREATIC CANCER PANEL (27. March 2023)
- NeoThetis NSCLC CANCER PANEL (27. March 2023)
- NeoThetis MELANOMA CANCER PANEL (27. March 2023)
- NeoThetis GASTRIC CANCER PANEL (27. March 2023)
- NeoThetis COLORECTAL CANCER PANEL (27. March 2023)
- NeoThetis BREAST/GYNECOLOGICAL CANCER PANEL (27. March 2023)
- NeoThetis PAN-CANCER PANEL (27. March 2023)
- Adventia Carrier Screening Alpha Thalassemia Focus Panel (22. March 2023)
- Adventia Carrier Screening B-Haemoglobinopathies Focus Panel (22. March 2023)
- Adventia Carrier Screening Cystic Fibrosis Focus Panel (22. March 2023)
- Adventia Carrier Screening Dystrophinopathies Focus Panel (22. March 2023)
- Adventia Carrier Screening Fragile X syndrome Focus Panel (22. March 2023)
- Adventia Carrier Screening Spinal Muscular Atrophy Focus Panel (22. March 2023)
- Adventia Carrier Screening Comprehensive Panel (22. March 2023)
- VERAgene NIPT (22. March 2023)
- Adventia Carrier Screening Core Panel (22. March 2023)
- Amfira PGT-SR (20. March 2023)
- Amfira PGT-A (20. March 2023)
- VENTRILIA AORTOPATHY PANEL (25. January 2023)
- VENTRILIA ARRHYTHMIA PANEL (25. January 2023)
- VENTRILIA CARDIOMYOPATHY PANEL (25. January 2023)
- VENTRILIA CONGENITAL HEART DEFECTS (CHD) PANEL (25. January 2023)
- VENTRILIA FAMILIAL HYPERCHOLESTEROLEMIA (FH) PANEL (25. January 2023)
- VENTRILIA PULMONARY HYPERTENSION (PH) PANEL (25. January 2023)
- VENTRILIA RASOPATHIES PANEL (25. January 2023)
- VENTRILIA COMPREHENSIVE PANEL (25. January 2023)
- PRESENTIA THYROID CANCER PANEL (12. January 2023)
- PRESENTIA PARATHYROID CANCER PANEL (12. January 2023)
- PRESENTIA PARAGANGLIOMA / PHEOCHROMOCYTOMA CANCER PANEL (12. January 2023)
- PRESENTIA FAMILIAL MELANOMA CANCER PANEL (12. January 2023)
- PRESENTIA SKIN (XP-ASSOCIATED) CANCER PANEL (12. January 2023)
- PRESENTIA RENAL CANCER PANEL (12. January 2023)
- PRESENTIA PANCREATIC CANCER PANEL (12. January 2023)
- PRESENTIA PROSTATE CANCER PANEL (12. January 2023)
- PRESENTIA GASTRIC CANCER PANEL (12. January 2023)
- PRESENTIA PAN-CANCER PANEL (12. January 2023)
- PRESENTIA MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL (12. January 2023)
- PRESENTIA COLORECTAL POLYPOSIS SYNDROME CANCER PANEL (12. January 2023)
- PRESENTIA COLORECTAL NON-POLYPOSIS CANCER PANEL (12. January 2023)
- PRESENTIA COLORECTAL HIGH-RISK CANCER PANEL (12. January 2023)
- PRESENTIA COLORECTAL CANCER PANEL (12. January 2023)
- PreSENTIA BRCA1 / BRCA2 PANEL (12. January 2023)
- PreSENTIA BREAST HIGH RISK PANEL (12. January 2023)
- PreSENTIA BREAST / GYNECOLOGICAL GUIDELINES-BASED PANEL (12. January 2023)
- PreSENTIA BREAST / GYNECOLOGICAL CANCER PANEL (12. January 2023)
- AORTIC DISORDERS PANEL (5. December 2022)
- Rhesus factor (12. July 2022)
- NEWBORN TESTING (6. July 2022)
- ANTITHROMBIN DEFICIENCY (ATIII DEFICIENCY), HEREDITARY (21. March 2022)
- THYROID CANCER (21. January 2022)
- SARCOMA (21. January 2022)
- PROSTATE CANCER (21. January 2022)
- PANCREATIC CANCER (21. January 2022)
- OVARIAN CANCER (21. January 2022)
- LUNG CANCER (21. January 2022)
- MELANOMA (21. January 2022)
- LIVER CANCER (21. January 2022)
- GLIOBLASTOMA (20. December 2021)
- GASTROINTESTINAL STROMAL TUMOR (20. December 2021)
- GASTRIC CANCER (2. November 2021)
- COLON CARCINOMA (2. November 2021)
- BREAST CANCER (2. November 2021)
- BLADDER CANCER (2. November 2021)
- RASOPATHIES <br> COMPREHENSIVE PANEL (27. May 2021)
- BRAIN MALFORMATIONS <br> COMPREHENSIVE PANEL (27. May 2021)
- MYOTONIC DYSTROPHY TYPE 1 (CURSCHMANN-STEINERT SYNDROME) (9. April 2021)
- HETEROTAXY WITH HEART DEFECTS PANEL (1. April 2021)
- EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC (spEDS) (31. March 2021)
- OVARIAN DYSGENESIS (2. March 2021)
- PREMATURE OVARIAN FAILURE (POF) (extended) (2. March 2021)
- PREMATURE OVARIAN FAILURE (POF) (standard) (2. March 2021)
- HYPOGONADOTROPIC HYPOGONADISM / KALLMANN SYNDROME (2. March 2021)
- CELIAC DISEASE (2. March 2021)
- Crohn‘s disease (2. March 2021)
- Spontaenous abortion diagnostics (2. March 2021)
- FSH receptor deficiency (2. March 2021)
- Fragile X-associated primary ovarian insufficiency (FXPOI) (2. March 2021)
- CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS (CBAVD) (2. March 2021)
- AZOOSPERMIA (standard) (2. March 2021)
- AZOOSPERMIA (extended) (2. March 2021)
- URINARY TRACT MALFORMATION core panel (2. March 2021)
- URINARY TRACT MALFORMATION extended panel (2. March 2021)
- COLON CANCER <br> extended panel (2. March 2021)
- NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) core panel (2. March 2021)
- NEPHROTIC SYNDROME (FOCAL SEGMENTAL GLOMERULOSCLEROSIS, NS) extended panel (2. March 2021)
- CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) extended panel (2. March 2021)
- CONGENITAL ABNORMALITIES OF THE KIDNEYS AND URINARY TRACT (CAKUT) core panel (2. March 2021)
- Kidney agenesis/dysgenesis (core panel) (2. March 2021)
- Kidney agenesis/dysgenesis (extended panel) (2. March 2021)
- Lower urinary tract obstruction (LUTO), congenital (2. March 2021)
- Nephrogenic diabetes insipidus (NDI) (2. March 2021)
- Renal cysts and diabetes syndrome (2. March 2021)
- Renal tubular dysgenesis (2. March 2021)
- Thin-basement-membrane nephropathy (Hematuria, benign familial) (2. March 2021)
- CARDIOFACIOCUTANEOUS SYNDROME (2. March 2021)
- NEUROFIBROMATOSIS-NOONAN SYNDROME (NF/NS) (2. March 2021)
- NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR (2. March 2021)
- NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (CBL VARIANT-ASSOCIATED SYNDROME) (2. March 2021)
- NEUROFIBROMATOSIS TYPE 1 (NF1) (2. March 2021)
- LEGIUS SYNDROME (2. March 2021)
- RASOPATHIES PANEL (2. March 2021)
- ALPORT SYNDROME (ATS) (2. March 2021)
- COSTELLO SYNDROME (2. March 2021)
- LEOPARD SYNDROME (2. March 2021)
- PANCREATITIS (2. March 2021)
- ATAXIAS, SPASTIC extended panel (2. March 2021)
- ATAXIAS, SPASTIC core panel (2. March 2021)
- NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES (2. March 2021)
- EPILEPSY, BENIGN FAMILIAL INFANTILE SEIZURES (2. March 2021)
- GERSTMANN-STRAUSSLER-SCHEINKER DISEASE (2. March 2021)
- GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME (2. March 2021)
- HYPEREKPLEXIA, HEREDITARY (STARTLE DISEASE) (2. March 2021)
- HUNTINGTON DISEASE (2. March 2021)
- NEUROPATHIES, HEREDITARY (2. March 2021)
- MIGRAINE, FAMILIAL HEMIPLEGIC (2. March 2021)
- EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY (2. March 2021)
- EPILEPSY, GENERALIZED JUVENILE MYOCLONIC (2. March 2021)
- EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS (2. March 2021)
- EPILEPSY, PYRIDOXINE-DEPENDENT (2. March 2021)
- EPILEPSY, THERAPY RELEVANT (2. March 2021)
- FRAGILE X TREMOR/ATAXIA SYNDROME (2. March 2021)
- EPILEPSY, FOCAL (2. March 2021)
- ATAXIAS, FRIEDREICH (FRDA1) (2. March 2021)
- EPILEPSY (2. March 2021)
- DENTATORUBRAL PALLIDOLUYSIAN ATROPHY (2. March 2021)
- CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A (2. March 2021)
- CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, AXONAL, AUTOSOMAL DOMINANT (2. March 2021)
- CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2 (2. March 2021)
- CHOREATIC MOVEMENT DISORDERS core panel (2. March 2021)
- CHOREATIC MOVEMENT DISORDERS extended panel (2. March 2021)
- CHARCOT-MARIE-TOOTH DISEASE (2. March 2021)
- CREUTZFELDT–JAKOB DISEASE (2. March 2021)
- AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS (2. March 2021)
- CADASIL SYNDROME (2. March 2021)
- DRAVET SYNDROME (2. March 2021)
- SPINAL MUSCULAR ATROPHIES, NEONATAL, EARLY-ONSET AND PONTOCEREBELLAR HYPOPLASIA (2. March 2021)
- SPINAL MUSCULAR ATROPHIES, LATE-ONSET (2. March 2021)
- SPINAL MUSCULAR ATROPHIES TYPE I, II, III, IV (2. March 2021)
- ATAXIAS, SYNDROMIC (2. March 2021)
- AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS (2. March 2021)
- AMYLOIDOSIS (2. March 2021)
- EPILEPSY, ABSENCE (2. March 2021)
- ALZHEIMER‘S DISEASE, EARLY-ONSET (2. March 2021)
- ATAXIAS (2. March 2021)
- ATAXIAS, EPISODIC (2. March 2021)
- ALZHEIMER‘S DISEASE, LATE-ONSET (2. March 2021)
- SPINAL MUSCULAR ATROPHIES (non-5q-SMA) (2. March 2021)
- MYOTONIAS, NON-DYSTROPHIC AND PERIODIC PARALYSIS (2. March 2021)
- MYOPATHIES, NEMALINE (2. March 2021)
- MYOPATHIES, MYOFIBRILLAR (2. March 2021)
- MYOPATHIES, CONGENITAL extended panel (2. March 2021)
- MYOPATHIES, CONGENITAL core panel (2. March 2021)
- MUSCULAR DYSTROPHIES, PROGRESSIVE extended panel (2. March 2021)
- MUSCULAR DYSTROPHIES, PROGRESSIVE core panel (2. March 2021)
- MUSCULAR DYSTROPHIES, CONGENITAL (2. March 2021)
- MUSCULAR ATROPHY, SPINOBULBAR (SBMA, KENNEDY DISEASE) (2. March 2021)
- UREA CYCLE DISORDERS (2. March 2021)
- WILSON DISEASE (2. March 2021)
- MYOPATHIES, CORE extended panel (2. March 2021)
- MYOPATHIES, CORE core panel (2. March 2021)
- MUSCULAR DYSTROPHIES (2. March 2021)
- METABOLIC MYOPATHIES, GLYCOGENOSIS WITH MUSCULAR INVOLVEMENT AND CARNITINE CYCLE DISORDERS (2. March 2021)
- METABOLIC MYOPATHIES, DEFECTS IN MITOCHONDRIAL ß-OXIDATION AND MITOCHONDRIAL DNA DEPLETION SYNDROMES AND MYOPATHY (2. March 2021)
- METABOLIC MYOPATHIES (2. March 2021)
- HYPOKALEMIC PERIODIC PARALYSIS (2. March 2021)
- DUCHENNE/BECKER MUSCULAR DYSTROPHY (2. March 2021)
- PORPHYRIA (2. March 2021)
- TYROSINEMIA, TYPE I (2. March 2021)
- TAY-SACHS DISEASE (2. March 2021)
- TANGIER DISEASE (2. March 2021)
- SMITH-LEMLI-OPITZ SYNDROME (2. March 2021)
- PROPIONIC ACIDEMIA (2. March 2021)
- PHENYLKETONURIA (2. March 2021)
- OBESITY, MONOGENIC (2. March 2021)
- MITOCHONDRIAL CARNITINE-ACYLCARNITINE CYCLE DISORDERS (2. March 2021)
- MEVALONIC ACIDURIA (2. March 2021)
- METHYLMALONIC ACIDURIA (2. March 2021)
- MATURITY ONSET DIABETES OF THE YOUNG (MODY) (2. March 2021)
- MUCOPOLYSACCHARIDOSIS (2. March 2021)
- Niemann-Pick disease (2. March 2021)
- ISOVALERIC ACIDEMIA (2. March 2021)
- MAPLE SYRUP URINE DISEASE (MSUD) (2. March 2021)
- MEDIUM-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (2. March 2021)
- MALIGNANT HYPERTHERMIA (2. March 2021)
- LIPOPROTEIN LIPASE DEFICIENCY (2. March 2021)
- LACTOSE INTOLERANCE (2. March 2021)
- Lactase deficiency, congenital (2. March 2021)
- HYPOALPHALIPOPROTEINEMIA (PRIMARY HDL DEFICIENCY SYNDROME) (2. March 2021)
- HYPERTRIGLYCERIDEMIA, PRIMARY (2. March 2021)
- HYPEROXALURIA (2. March 2021)
- HYPERLIPOPROTEINEMIA, TYPE III (2. March 2021)
- Krabbe disease (2. March 2021)
- GLUTARIC ACIDEMIA TYPE I (GA1) (2. March 2021)
- MEULENGRACHT (GILBERT) SYNDROME (2. March 2021)
- HYPOBETALIPOPROTEINEMIA, FAMILIAL (FHBL) (2. March 2021)
- HYPERLIPOPROTEINEMIA, TYPE IB (2. March 2021)
- HYPERLIPOPROTEINEMIA, MIXED (COMBINED HYPERLIPIDEMIA IIB) (2. March 2021)
- HYPERHOMOCYSTEINEMIA (2. March 2021)
- HYPERCHOLESTEROLEMIA, FAMILIAL core panel (2. March 2021)
- HYPERCHOLESTEROLEMIA, FAMILIAL extended panel (2. March 2021)
- HEMOCHROMATOSIS, HEREDITARY extended panel (2. March 2021)
- HEMOCHROMATOSIS, HEREDITARY core panel (2. March 2021)
- GLUCOSIDASE, ALPHA, ACID (GAA, POMPE DISEASE) (2. March 2021)
- GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY (FAVISM) (2. March 2021)
- HEPATIC LIPASE DEFICIENCY, FAMILIAL (HL) (2. March 2021)
- BIOTINIDASE DEFICIENCY (2. March 2021)
- FATTY ACID OXIDATION DISORDERS (2. March 2021)
- GALACTOSEMIA (2. March 2021)
- GLUCOSIDASE, BETA, ACID (GBA, GAUCHER DISEASE) (2. March 2021)
- GALACTOSIDASE, ALPHA (GLA, FABRY DISEASE) (2. March 2021)
- FRUCTOSE INTOLERANCE, including FBP1 deficiency (2. March 2021)
- FISH EYE DISEASE (FED) (2. March 2021)
- DIHYROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPD DEFICIENCY) (2. March 2021)
- CRIGLER-NAJJAR SYNDROME (2. March 2021)
- CHYLOMICRONEMIA SYNDROME (2. March 2021)
- APOLIPOPROTEIN A-I DEFICIENCY (ApoA-I) (2. March 2021)
- ALCOHOL INTOLERANCE (2. March 2021)
- ABETALIPOPROTEINEMIA (ABL) (2. March 2021)
- ALPHA-1 ANTITRYPSIN DEFICIENCY (AAT) (2. March 2021)
- PULMONARY ALVEOLAR MICROLITHIASIS (PAM) (2. March 2021)
- SHWACHMAN-BODIAN-DIAMOND SYNDROME (SBDS) (2. March 2021)
- PULMONARY ARTERIAL HYPERTENSION (PAH) (2. March 2021)
- INTERSTITIAL LUNG DISEASE (ILD) (2. March 2021)
- CYSTIC FIBROSIS (CF) (2. March 2021)
- X-LINKED AGAMMAGLOBULINEMIA (XLA) (2. March 2021)
- Severe combined immunodeficiency, X-linked (X-SCID) (2. March 2021)
- Wiskott-Aldrich syndrome (2. March 2021)
- AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY (APECED) (2. March 2021)
- WAARDENBURG SYNDROME (WS) (2. March 2021)
- HYPER-IGM SYNDROME (HIGM) (2. March 2021)
- CONGENITAL NEUTROPENIA (2. March 2021)
- COMBINED B AND T CELL IMMUNODEFICIENCIES (2. March 2021)
- LYMPHOPROLIFERATIVE SYNDROME, X-LINKED (2. March 2021)
- Perrault syndrome (2. March 2021)
- Agammaglobulinemia (2. March 2021)
- Neutropenia, cyclic / Neutropenia, severe congenital 1 (2. March 2021)
- Severe combined immunodeficiency (T-B-) (2. March 2021)
- Severe combined immunodeficiency (T-B+) (2. March 2021)
- PENDRED SYNDROME (2. March 2021)
- BRAIN MALFORMATIONS <br> TUBULINOPATHIES PANEL (2. March 2021)
- DEAFNESS/HEARING LOSS (2. March 2021)
- Deafness / hearing loss, autosomal dominant (core panel) (2. March 2021)
- Deafness / hearing loss, autosomal recessive 2 (core panel) (2. March 2021)
- Deafness / hearing loss, autosomal recessive 1 (core panel) (2. March 2021)
- Deafness / hearing loss, autosomal dominant (extended panel) (2. March 2021)
- Deafness / hearing loss, autosomal recessive 2 (extended panel) (2. March 2021)
- Deafness / hearing loss, syndromic (2. March 2021)
- Deafness, nonsyndromic (2. March 2021)
- OVERGROWTH SYNDROMES PANEL (2. March 2021)
- RETT SYNDROME AND RELATED DISORDERS PANEL (2. March 2021)
- RETT SYNDROME PANEL (2. March 2021)
- PEDIATRIC NEUROTRANSMITTER DISORDERS PANEL (2. March 2021)
- MICROCEPHALY PANEL (2. March 2021)
- BRAIN MALFORMATIONS <br> PONTOCEREBELLAR HYPOPLASIA PANEL (2. March 2021)
- CONGENITAL DISORDERS OF GLYCOSYLATION PANEL (2. March 2021)
- FRAGILE X SYNDROME (2. March 2021)
- AUTISM SPECTRUM DISORDERS PANEL (2. March 2021)
- MACROCEPHALY PANEL (2. March 2021)
- GPI ANCHOR DEFICIENCY PANEL (2. March 2021)
- BRAIN MALFORMATIONS <br> LISSENCEPHALY PANEL (2. March 2021)
- CORNELIA DE LANGE SYNDROME PANEL (2. March 2021)
- TURNER SYNDROME (MONOSOMY X) (2. March 2021)
- PATAU SYNDROME (TRISOMY 13) (2. March 2021)
- TRIPLE X SYNDROME (TRISOMY X) (2. March 2021)
- PRADER-WILLI SYNDROME (2. March 2021)
- DELETIONS, DUPLICATIONS AND ANEUPLOIDIES (2. March 2021)
- KLINEFELTER SYNDROME (47,XXY SYNDROME) (2. March 2021)
- DIGEORGE SYNDROME (22q11.2) (2. March 2021)
- MICRODELETION 1p36 (2. March 2021)
- DOWN SYNDROME (TRISOMY 21) (2. March 2021)
- TNF RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME (TRAPS) (2. March 2021)
- INTELLECTUAL DISABILITY PANEL (2. March 2021)
- CONGENITAL ADRENAL HYPERPLASIA (2. March 2021)
- PERIODIC FEVER SYNDROMES (2. March 2021)
- HYPER-IgD SYNDROME/MEVALONATE KINASE DEFICIENCY (2. March 2021)
- FAMILIAL MEDITERRANEAN FEVER (FMF) (2. March 2021)
- CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES (CAPS) (2. March 2021)
- USHER SYNDROME (USH) (2. March 2021)
- RETINITIS PIGMENTOSA (2. March 2021)
- ANDROGEN INSENSITIVITY SYNDROME (AIS) (2. March 2021)
- STICKLER SYNDROME (STL) (2. March 2021)
- THORACIC AORTIC ANEURYSMS AND DISSECTIONS (TAAD) (2. March 2021)
- Type 1 fibrillinopathies (2. March 2021)
- Weill-Marchesani syndrome (2. March 2021)
- OSTEOGENESIS IMPERFECTA, AUTOSOMAL RECESSIVE <br> core panel (2. March 2021)
- OSTEOGENESIS IMPERFECTA, AUTOSOMAL DOMINANT <br> core panel (2. March 2021)
- OSTEOGENESIS IMPERFECTA <br> extended panel (2. March 2021)
- Marshall syndrome (2. March 2021)
- Meester-Loeys syndrome (2. March 2021)
- Metaphyseal chondrodysplasia, Schmid type (2. March 2021)
- Muenke syndrome (2. March 2021)
- Otospondylomegaepiphyseal dysplasia (OSMED) (2. March 2021)
- Pfeiffer syndrome (2. March 2021)
- Pseudoxanthoma elasticum (2. March 2021)
- Saethre-Chotzen syndrome (2. March 2021)
- Spondyloepiphyseal dysplasia (2. March 2021)
- LÉRI-WEILL DYSCHONDROSTEOSIS (2. March 2021)
- HYPOCHONDROPLASIA (2. March 2021)
- LOEYS-DIETZ SYNDROME (LDS) (2. March 2021)
- EHLERS-DANLOS SYNDROME, RARE TYPES AND DIFFERENTIAL DIAGNOSIS (2. March 2021)
- EHLERS-DANLOS SYNDROME, VASCULAR (vEDS) (2. March 2021)
- EHLERS-DANLOS SYNDROME, PERIODONTAL (pEDS) (2. March 2021)
- EHLERS-DANLOS SYNDROME, MYOPATHIC (mEDS) (2. March 2021)
- MARFAN SYNDROME (MFS) (2. March 2021)
- Geleophysic dysplasia (2. March 2021)
- Hemorrhage, intracerebral (2. March 2021)
- Hypochondrogenesis (2. March 2021)
- Kniest syndrome (2. March 2021)
- Langer mesomelic dysplasia (2. March 2021)
- CRANIOSYNOSTOSIS <br> core panel (2. March 2021)
- CUTIS LAXA (2. March 2021)
- EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE SUBTYPES (2. March 2021)
- EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL (mcEDS) (2. March 2021)
- EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC (kEDS) (2. March 2021)
- EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS (dEDS) (2. March 2021)
- EHLERS-DANLOS SYNDROME, CLASSICAL-LIKE (clEDS) (2. March 2021)
- EHLERS-DANLOS SYNDROME, CLASSICAL (cEDS) (2. March 2021)
- EHLERS-DANLOS SYNDROME, CARDIAC-VALVULAR (cvEDS) (2. March 2021)
- EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT SUBTYPES (2. March 2021)
- EHLERS-DANLOS SYNDROME, ARTHROCHALASIA (aEDS) (2. March 2021)
- Crouzon syndrome (2. March 2021)
- Crouzon syndrome with acanthosis nigricans (2. March 2021)
- Ectopia lentis (2. March 2021)
- SHORT RIB THORACIC DYSPLASIA <br> extended panel (2. March 2021)
- SHORT RIB THORACIC DYSPLASIA <br> core panel (2. March 2021)
- CRANIOSYNOSTOSIS <br> extended panel (2. March 2021)
- OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL) <br> extended panel (2. March 2021)
- OROFACIODIGITAL SYNDROME (OFD, ORAL-FACIAL-DIGITAL) <br> core panel (2. March 2021)
- POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL DOMINANT (ADPKD) (2. March 2021)
- SENIOR LOKEN SYNDROME (SLS) (2. March 2021)
- POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE (ARPKD) (2. March 2021)
- BICUSPID AORTIC VALVE (BAV) (2. March 2021)
- Achondrogenesis type 2 (2. March 2021)
- Achondroplasia (2. March 2021)
- Apert syndrome (2. March 2021)
- Contractural arachnodactyly, congenital (2. March 2021)
- BARDET-BIEDL SYNDROME (BBS) extended panel (2. March 2021)
- PRIMARY CILIARY DYSKINESIA (PCD) <br> extended panel (2. March 2021)
- PRIMARY CILIARY DYSKINESIA (PCD) <br> core panel (2. March 2021)
- NEPHRONOPHTHISIS (NPHP) <br> extended panel (2. March 2021)
- NEPHRONOPHTHISIS (NPHP) <br> core panel (2. March 2021)
- MECKEL-GRUBER SYNDROME (MKS) <br> extended panel (2. March 2021)
- MECKEL-GRUBER SYNDROME (MKS) <br> core panel (2. March 2021)
- JOUBERT SYNDROME (JBTS) <br> extended panel (2. March 2021)
- JOUBERT SYNDROME (JBTS) <br> core panel (2. March 2021)
- HETEROTAXY (2. March 2021)
- SHORT QT SYNDROME (SQTS) (2. March 2021)
- EHLERS-DANLOS SYNDROME (EDS) (2. March 2021)
- CONGENITAL HEART DEFECTS PANEL (2. March 2021)
- SYNDROMIC CONGENITAL HEART DEFECTS PANEL (2. March 2021)
- RESTRICTIVE CARDIOMYOPATHY (RCM) (2. March 2021)
- RASOPATHIES WITH HEART DEFECTS PANEL (2. March 2021)
- MARFAN-LIKE DISORDERS PANEL (2. March 2021)
- LONG QT SYNDROME (LQTS) (2. March 2021)
- LEFT VENTRICULAR/NONCOMPACTION CARDIOMYOPATHY (LVNC) (2. March 2021)
- ISOLATED CONGENITAL HEART DEFECTS PANEL (2. March 2021)
- HYPERTROPHIC CARDIOMYOPATHY (HCM) (2. March 2021)
- DILATED CARDIOMYOPATHY (DCM) (2. March 2021)
- CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT) (2. March 2021)
- ARRYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC) (2. March 2021)
- BRUGADA SYNDROME (2. March 2021)
- SICKLE CELL DISEASE (2. March 2021)
- TELANGIECTASIA, HEREDITARY HEMORRHAGIC (OSLER DISEASE) (2. March 2021)
- SIDEROBLASTIC ANEMIA (2. March 2021)
- VON WILLEBRAND DISEASE (2. March 2021)
- PROTEIN S DEFICIENCY (2. March 2021)
- PROTEIN C DEFICIENCY (2. March 2021)
- HEMOPHILIA B (2. March 2021)
- HEMOPHILIA A (2. March 2021)
- THROMBOPHILIA (2. March 2021)
- SPHEROCYTOSIS, HEREDITARY (2. March 2021)
- ARRYTHMIAS & CARDIOMYOPATHIES PANEL (2. March 2021)
- ALAGILLE SYNDROME (2. March 2021)
- ALPHA THALASSEMIA (2. March 2021)
- BETA THALASSEMIA (2. March 2021)
- FACTOR XIII DEFICIENCY (2. March 2021)
- FACTOR VII DEFICIENCY (2. March 2021)
- MISCARRIAGE DIAGNOSTICS (3. November 2020)
- Non-Invasive Prenatal Testing (3. November 2020)
- FANCONI ANEMIA (3. November 2020)
- UNSPECIFIC TUMOR SYNDROMES (3. November 2020)
- NERVOUS SYSTEM/BRAIN TUMORS (3. November 2020)
- ENDOCRINE TUMORS (3. November 2020)
- SKIN TUMORS (3. November 2020)
- PROSTATE CANCER (3. November 2020)
- KIDNEY CANCERS (3. November 2020)
- PANCREATIC TUMORS (3. November 2020)
- GASTROINTESTINAL TUMORS (3. November 2020)
- COLON CANCER <br> core panel (3. November 2020)
- BREAST AND OVARIAN CANCER <br> extended panel (3. November 2020)
- BREAST AND OVARIAN CANCER <br /> core panel (3. November 2020)
- BREAST AND OVARIAN CANCER <br> BRCA1, BRCA2 (3. November 2020)
- COMPREHENSIVE HEREDITARY CANCER PANEL (3. November 2020)
