Medical genetic history (including developmental and reproductive history)
- VideoMedical Genetics History – Medical Genetics | Lecturio4:14
- +22 more links
Practicals · MGEN
Medical Genetics
99 practical items from the NBEMS DrNB curriculum and the NMC DM/MCh guidelines, grouped by the curriculum's own sections.
Links point to videos and pages published by others; SolvedPGSS does not host them. Check any technique against your department's protocol before you use it on a patient.
99 items
Clinical genetics
Pedigree construction (three to five generations)
- VideoHow to draw a pedigree3:00
- VideoHOW TO DRAW A PEDIGREE CHART IN LESS THAN A MINUTE 2:57
- +33 more links
Dysmorphology examination (major and minor anomalies)
- VideoApproach to a neonate with dysmorphism55:50
- VideoApproach to Dysmorphic Child by Dr. Waheed Hussain51:05
- +66 more links
Anthropometric measurements in clinical genetics
- PageClinical anthropometry and medical genetics: a compilation of body measurements in genetic and congenital disorders - PubMedpubmed.ncbi.nlm.nih.gov
- +22 more links
Clinical photography for documenting dysmorphic features
- VideoHow to take clinical photography of children with complex conditions | Melbourne Genomics1:27
- +22 more links
Examination of parents and relatives for subtle findings
No good resource found yet.
Evaluation of growth and development
- VideoTracking Growth in Children – Pediatric Endocrinology | Lecturio4:01
- VideoGrowth Chart Basics in 3 minutes3:01
- +66 more links
Hearing evaluation
- VideoInfant hearing test - Audiology at the University of Canterbury3:20
- VideoChild hearing test - Audiology at the University of Canterbury5:47
- +66 more links
Evaluation of intellectual disability
- Videovarvis® workshop @SIGU 2020: Diagnosing intellectual disability using exome analysis32:08
- PageIntellectual disability (ID) in children: Evaluation for a causeuptodate.com
- +44 more links
Evaluation of disorders of sex development
- VideoAPPROACH TO DISORDERS OF SEXUAL DIFFERENTIATION58:36
- VideoA practical approach to diagnosis of Ambiguous Genitalia35:43
- +66 more links
Evaluation of short stature
- VideoShort Stature in Children: Diagnosis & Clinical Presentation – Pediatric Endocrinology | Lecturio7:49
- VideoPediatrics – Stature Abnormalities: By Kyle McNerney M.D.3:36
- +66 more links
Skeletal dysplasia radiograph interpretation
- VideoSkeletal Dysplasias12:42
- VideoSkeletal Dysplasias12:53
- +66 more links
Prenatal genetics
Interviewing pregnant women to identify fetal risk
- PageAcceptance, communication mode, and use of audio computer-assisted self- interviewing using touch screen to identify risk factors among pregnant minority women | RTIrti.org
Preconception and pregnancy genetic counselling
- VideoGenetic Counseling for Pregnancy15:17
- PagePreconception and prenatal genetic counselling - ScienceDirectsciencedirect.com
- +33 more links
Fetal autopsy
- VideoFetal Autopsy || Objectives || Dr Krup Vasavda5:28
- VideoFetal post mortem examination7:31
- +66 more links
Genetic counselling
Genetic counselling session
- VideoGenetic Counseling II Genetics II B Sc Nursing 2nd Year II Anju Mam II12:47
- VideoPediatric Session with Robin Bennett, MS, CGC31:11
- +66 more links
Pre-test genetic counselling
- PageGenetic Counselling | Doctorpatient.info
- PagePre-test and post-test genetic counseling | TACGdovepress.com
- +33 more links
Recurrence risk calculation
- VideoApproach to Bayesian Calculations for ABGC and ABMGG Exams12:42
- PageRisk Calculation | Clinical Gateclinicalgate.com
- +44 more links
Conveying bad news and difficult genetic information
- PageBreaking Bad Newsgeneticcounselingtoolkit.com
- PageBreaking bad news in genetic counseling—problems and ...link.springer.com
- +33 more links
Ethical and legal
Informed written consent and PCPNDT record keeping
- PagePCPNDT Simplified: A Guide for Radiology Residentscaferoentgen.com
- PagePre-conception & Pre-natal Diagnostic Techniques Rules, ...thc.nic.in
- +33 more links
Documentation
Written documentation and medical record keeping
- VideoAccepted Standards for Medical Record Documentation॥Guidelines for MRD॥ Accepted standards NABH-MRD10:08
- VideoMedical Record Documentation - Ethical and Legal Issues37:05
- +66 more links
Writing referral notes
- VideoHow to write an OET referral letter (New 2019 criteria) with sample!11:47
- VideoOET Writing Sample for DOCTORS11:19
- +66 more links
Writing patient information brochures in local languages
- PageGuidelines for the Production of Multilingual Resourcesmhcs.health.nsw.gov.au
- +22 more links
Genetic testing
Predictive (presymptomatic) genetic testing
- PageHuman Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children | Twin Research and Human Genetics | Cambridge Corecambridge.org
- PagePredictive testing — Knowledge Hubgenomicseducation.hee.nhs.uk
- +33 more links
Carrier testing and screening
- VideoGenetics: Perils & Pitfalls of Expanded Carrier Screening5:16
- VideoSECTION 4: Review of Carrier Screening for Common Autosomal Recessive Conditions5:48
- +44 more links
Haemoglobinopathies
Antenatal and newborn haemoglobinopathy screening
- VideoPrenatal Diagnosis: Antenatal Screening in Thalassemia Patients (1-Hour Education Session 18/01/23)45:56
- VideoHCC Teaching session: Antenatal Screening of Haemoglobinopathies - Interpretation of results17:54
- +44 more links
Haemoglobin A2 estimation
- PageHemoglobin A2 Quantification Lab Protocol - studylib.netstudylib.net
- PageICSH | Recommendations for the Measurement of Haemoglobin A2icsh.org
- +33 more links
Haemoglobin electrophoresis
- VideoHemoglobin Electrophoresis6:04
- VideoHemoglobin Electrophoresis Short Video4:32
- +66 more links
Clinical procedures
Sweat chloride test
- VideoPerforming a Sweat Test16:25
- VideoSweat test | Diagnosing cystic fibrosis8:59
- +44 more links
Muscle biopsy
- VideoModified Bergstrom Technique for Human Skeletal Muscle Biopsy | Protocol Preview2:01
- VideoIndication and Technique of Muscle Biopsy | Medvarsity12:23
- +66 more links
Nerve biopsy
- VideoSural Nerve Biopsy - Stepwise Demonstration | SurgeonKishan2:24
- VideoNerve Muscle Biopsy. In depth explanation by Dr Anusha S Neuropathologist Mangalore.33:35
- +66 more links
Skin biopsy for genetic studies
- PageCollection and Storage of a Skin Biopsy for NF1-Related Genetic Studies (Melanocyte culture)dpo.uab.edu
- +11 more link
Genetic databases and bioinformatics
Syndrome diagnosis using dysmorphology databases and software (LMD, POSSUM)
- PageComputer systems in dysmorphologypubmed.ncbi.nlm.nih.gov
- PageThe diagnosis of syndromes by use of a dysmorphology databasepubmed.ncbi.nlm.nih.gov
- +33 more links
Phenotyping with Human Phenotype Ontology (HPO) terms
- VideoDescribing a phenotype: Using HPO terms9:39
- VideoIntroduction to the Human Phenotype Ontology project50:06
- +66 more links
Variant interpretation and in silico analysis of sequence variants and CNVs
- VideoPresentation - Variant Classification using ACMG/AMP Guidelines (Steven Harrison)37:23
- VideoACMG AMP guidelines overview and optimization15:54
- +66 more links
NGS data analysis (bioinformatics)
- VideoExome sequencing data analysis for diagnosing a genetic disease19:09
- VideoNGS Pipeline8:43
- +66 more links
OMIM database use
- VideoHow to Search Tutorial4:24
- VideoOMIM Presentation6:07
- +66 more links
DECIPHER database use
- VideoVariant search using DECIPHER Genome Viewer10:57
- VideoDepositing Copy Number Variants2:29
- +66 more links
Database of Genomic Variants (DGV) use
- VideoTip of the Week: The New Database of Genomic Variants -- DGV2 (edited)4:56
- VideoDatabase of Genomic Variants - Ana Carolina Silva de Jesus3:39
- +66 more links
ClinGen resource use
- VideoClinGen Welcome Video1:19
- VideoPresentation - Copy Number Variant Interpretation/Dosage Sensitivity Curation (Erica Andersen)42:09
- +66 more links
GeneCards database use
- VideoGeneCards®: The Human Gene Database | Lecture 78 | Dr. Muhammad Naveed9:23
- VideoGene Expression Data using GeneCards Database2:09
- +66 more links
GeneReviews / GeneClinics knowledge base use
- PageGeneReviews Advanced Search Helpncbi.nlm.nih.gov
- +11 more link
TERIS teratogen information system use
- PageTERIS | TERIS: The Teratogen Information Systemterisweb.pear-net.org
- PageTERIS - Teratogen Information Systempear-net.org
- +33 more links
Cytogenetics
Chromosomal microarray (CMA / array-CGH) analysis
- Video(Array CGH) For Detection Of Genomic Copy Number Variants2:01
- VideoChromosome Analysis | Comparative Genome Hybridization (CGH) | Genetics Basics | Cell Biology4:29
- +66 more links
BACs-on-Beads cytogenetic assay
- PageExtended application of BACs-on-Beads technique in prenatal diagnosispmc.ncbi.nlm.nih.gov
- PageBACs-on-beads: a new robust and rapid detection method ...semanticscholar.org
- +33 more links
Karyotyping from peripheral blood
- VideoEverything you Need to Know:Chromosome Analysis (Karyotyping)2:22
- VideoSteps of Karyotyping2:34
- +66 more links
Bone marrow cytogenetics
- PageCytogenetics, Chromosome Analysis, Bone Marrow | MLabsmlabs.umich.edu
- +22 more links
Amniotic fluid karyotyping (prenatal cytogenetics)
- VideoHow to Culture Amniotic Fluid Cells for Cytogenetic Analysis3:00
- VideoChromosome Aneuploidy | Amniocentesis7:02
- +55 more links
Chorionic villus sample karyotyping
- PageChorionic Villus Sampling: Full Chromosome Analysisknightdxlabs.ohsu.edu
- +22 more links
Products of conception karyotyping
- VideoFertility Masterclass 68: POC (Product of Conception) Karyotyping: Clinical Points for Gynecologists24:09
- PagePreparation and Culture of Products of Conception and Other ...currentprotocols.onlinelibrary.wiley.com
- +44 more links
Cell culture and chromosome banding (G-banding)
- VideoChromosome Banding Techniques4:06
- VideoChromosome Banding: Karyotyping21:41
- +66 more links
Cytogenetic slide reporting and ISCN nomenclature
- VideoInternational System for Human Cytogenetic Nomenclature (ISCN)-Part 2 Chromosome Nomenclature Rules13:20
- VideoInternational System for Human Cytogenomic Nomenclature ISCN guidelines for Describing Karyotypes11:22
- +55 more links
Fluorescence in situ hybridization (FISH) and slide reporting
- VideoFISH - Fluorescent In Situ Hybridization3:48
- VideoFluorescent In Situ Hybridization (FISH) Assay4:21
- +66 more links
Prenatal diagnosis
Amniocentesis
- VideoAmniocentesis: A Live Demonstration.4:05
- VideoAmniocentesis and CVS Animation1:17
- +66 more links
Chorionic villus sampling (CVS)
- VideoCVS for prenatal diagnosis6:35
- VideoAmniocentesis | Diagnostics: Ultrasound, Chorionic Villus Sampling, Amniocentesis | USMLE step 14:26
- +66 more links
Cordocentesis (fetal blood sampling)
- VideoFetal Blood Sampling (3D Modelling & Animation).6:00
- VideoDIGITALmotion: Medical Animation - Fetal Blood Sampling Kit4:09
- +66 more links
Fetal tissue sampling
- PageFetal tissue sampling--indications, techniques, complications ...pmc.ncbi.nlm.nih.gov
- +22 more links
Celomocentesis
No good resource found yet.
Embryoscopy
- Videoembryo-fetoscopy by Hysteroscopy2:38
- PageEmbryofetoscopy: a new “old” tool | Gynecological Surgerylink.springer.com
- +44 more links
Polar body biopsy
- VideoAP2: DEVELOPMENT: POLAR BODIES.avi1:14
- VideoOocyte : Polar body biopsy.wmv1:35
- +66 more links
Preimplantation genetic diagnosis (PGD)
- VideoPGT-M: Preimplantation Genetic Testing for Monogenic Disorders2:25
- VideoPreimplantation Genetic Diagnosis (PGD) - YouTubeHow Preimplantation Genetic Diagnosis (PGD) Works - YouTubePreimplantation genetic diagnosis (pgd) PGD | PPTX - SlideSharepreimplantation genetic diagnosis: Heidelberg University HospitalPre implantation genetic diagnosis (pgd) | PPT - SlideSharePreimplantation Genetic Diagnosis - EmbryologyPre-implantation genetic testing: a practical guide
- +55 more links
Fetal ultrasonography and fetal growth evaluation
- VideoFetal Measurements, Tips and Tricks17:41
- VideoFetal measurements and Doppler | How to do it !8:10
- +66 more links
Non-invasive prenatal testing (cell-free fetal DNA)
- VideoNon-Invasive Prenatal Testing6:47
- VideoPart 3: What is NIPT? (non-invasive prenatal testing)3:09
- +66 more links
First and second trimester screening (aneuploidy and neural tube defects)
- PageScreening for fetal aneuploidy and neural tube defectsgimjournal.org
- PageScreening for fetal aneuploidy and neural tube defects - PMCncbi.nlm.nih.gov
- +33 more links
Biochemical genetics
Newborn screening
- VideoHeel puncture collection for Newborn Bloodspot Screening1:57
- VideoCLSI Newborn Screening DVD | Informational Video (Clip)0:50
- +66 more links
Enzyme assays for storage and neurodegenerative disorders
- PageVideo: In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Diseasejove.com
- +22 more links
Succinylacetone assay
- PageUrinary Succinylacetone Analysis by Gas Chromatography-Mass ...experiments.springernature.com
- PageUrinary Succinylacetone Analysis by Gas Chromatography-Mass...link.springer.com
- +33 more links
Alpha-1 antitrypsin assay
- VideoAlpha1 Antitrypsin Test7:10
- VideoAlpha-1 Antitrypsin Blood Test | AAT Testing | Alpha-1-Antiproteinase Inhibitor Deficiency | AATD1:44
- +33 more links
Ceruloplasmin assay
- VideoCeruloplasmin Test | Ceruloplasmin Test in Hindi | Ceruloplasmin Biochemistry3:50
- VideoCopperheads 7: Serum ceruloplasmin test for Wilson's disease [CC]
- +44 more links
Urine metabolic screening tests
- VideoMT 51: Didactics | Clinical Microscopy Review (Urine Screening for Metabolic Disorders)1:26:32
- VideoScreening Of Urine For Inborn Error22:35
- +66 more links
Thin layer chromatography for amino acids
- VideoSeparation of Amino acids by TLC - Amrita University3:24
- VideoPractical - Separation of mix. Of amino acids - Phenylalanine and glycine and Rf value calculation .4:48
- +66 more links
HPLC for plasma amino acids
- Page[PDF] Analysis of Plasma Amino Acids Using RP-HPLC and Pre-Column Derivatization with OPA/3-MPA | Semantic Scholarsemanticscholar.org
- PageDevelopment of a robust 30-minute reverse-phase high pressure liquid chromatography method to measure amino acids using widely available equipment and its comparison to current clinical ion-exchange chromatography measurementpmc.ncbi.nlm.nih.gov
- +33 more links
Tandem mass spectrometry (TMS) result interpretation
- PageTesting Modalities for Inborn Errors of Metabolismindianpediatrics.net
- PageTandem mass spectrometry: the tool of choice for diagnosing ...frontierspartnerships.org
- +33 more links
Urine GC-MS organic acid result interpretation
- Page84 Interpretation of Organic Acid Analysis Resultsacademic.oup.com
- +22 more links
Molecular genetics
DNA isolation and quantification
- VideoAnimation | DNA Isolation | Molecular Biology TechniquesStep to Step DNA Isolation/Extraction Protocol From Pure ...Genomic Dna Isolation - Research & Education Videos | JoVENucleic Acid Isolation Protocol Videos - Thermo Fisher ScientificVideo: DNA Isolation - app.jove.comDna Quantification - Research & Education Videos | JoVETechniques of DNA Extraction, Purification and QuantificationDNA & RNA Shearing For NGS - Unbiased & Reproducible
- PageGenomic Dna Isolation - Research & Education Videos | JoVEjove.com
- +44 more links
Probe and primer designing
- VideoPrimer Design for PCR16:15
- VideoPrimer designing for real time PCR using NCBI Primer Blast9:41
- +66 more links
PCR (standard and modifications)
- VideoPolymerase Chain Reaction (PCR): DNA Amplification5:09
- VideoPCR (Polymerase Chain Reaction) Explained10:45
- +66 more links
Real-time PCR
- VideoqPCR (real-time PCR) protocol explained4:37
- VideoPCR, rt-PCR and Real time PCR27:46
- +66 more links
Reverse transcription PCR (RT-PCR)
- VideoReverse transcription PCR - RT PCR procedure13:36
- VideoReverse Transcriptase PCR (RT PCR) | What are the applications of RT PCR ? | RT PCR protocol5:17
- +66 more links
Quantitative fluorescent PCR (QF-PCR) and electropherogram analysis
- VideoHow to read STR electropherogram15:35
- VideoQF PCR aneuploidy testing14:30
- +66 more links
Triplet-primed PCR (TP-PCR) for triplet repeat disorders
- VideoRepeat Expansion Diagnostic Techniques Part 2 - Repeat Primed PCR9:21
- VideoEvaluation of Triplet Repeat Primed PCR to Diagnose Fragile X Syndrome (Ann Lab Med)2:09
- +66 more links
ARMS PCR (amplification refractory mutation system)
- VideoAllele Specific PCR | ARMS PCR |6:18
- VideoTetra ARMS PCR: what it is and how it works6:35
- +66 more links
MLPA and electropherogram analysis
- VideoHow does MLPA work? | by MRC Holland7:17
- VideoMultiplex Ligation Dependent Probe Amplification | MLPA | How To Perform MLPA |3:40
- +66 more links
Gel electrophoresis (DNA/RNA/protein)
- VideoAgarose Gel Electrophoresis4:07
- VideoAgarose Gel Electrophoresis5:36
- +66 more links
Southern blotting
- VideoSouthern blot | Biomolecules | MCAT | Khan Academy5:10
- VideoSouthern Blot Method - Animated Video10:01
- +66 more links
Western blotting
- VideoWestern Blot / Protein Immunoblot explained4:23
- VideoWestern Blot - Theory and method16:28
- +66 more links
Sanger sequencing and chromatogram analysis
- VideoSanger sequencing6:30
- VideoHow does Sanger Sequencing Work? – Seq It Out #13:28
- +66 more links
Next-generation (massively parallel) sequencing
- VideoNext Generation Sequencing (Illumina) - An Introduction4:44
- VideoNGS Explained: Next Generation Sequencing Step-by-Step7:35
- +66 more links
Epigenetic techniques (DNA methylation studies)
- VideoCpG Islands and DNA Methylation4:02
- VideoBisulfite Sequencing - detect DNA Methylation4:10
- +66 more links
Luminex multiplexing
- VideoHow to Run an R&D Systems Luminex® Assay: Protocol, Tips & Tricks8:42
- VideoLuminex Assay | Multiplex Immuno Assay | Luminex xMAP Technology | Multiplex Assay |1:54
- +66 more links
Immunogenetics and HLA
HLA typing by serology
- VideoHLA Typing, Comparison of Serology and Molecular typing, Different resolution of HLA Alleles8:36
- PageHLA Typing - an overviewsciencedirect.com
- +33 more links
HLA typing by PCR-SSP
- VideoSSP-PCR Weblecture 23:13
- PagePCR-Sequence-Specific Primer Typing of HLA Class I and Class II Allelesexperiments.springernature.com
- +33 more links
Cross-matching for transplantation
- VideoThe Crossmatch: Is Virtual Better Than Real?45:16
- VideoABO Incompatible and Positive Crossmatch Kidney Transplants4:08
- +66 more links
Panel reactive antibody (PRA) testing
- VideoKidney Education Series: PRA Test Kit3:37
- VideoDR NEVEEN LEWIS ( panel reactive antibodies ; the details)19:28
- +55 more links
Donor-specific antibody (DSA) testing
- VideoDonor Specific Antibodies in Kidney Transplantation by Dr Muthukumar1:20:36
- VideoSolid phase anti-HLA antibody testing in kidney transplantation56:39
- +55 more links
Practical examination
Syndrome/disease identification spotters (slides, photographs, specimens, radiographs, gels, electropherograms)
- VideoRadiology Cases - Spotters Set 2 : Quiz and Discussion20:32
- VideoMD/DMRD/DNB STUDENTS RADIOLOGY SPOTTERS SET II 51 TO 10038:15
- +66 more links
Genetics long and short case presentation
No good resource found yet.
Treatment of genetic disease
Enzyme replacement therapy for lysosomal storage diseases
- Video25. Next Generation Therapy: Enzyme Replacement Therapy ERT with Dr. Nina Raben9:04
- VideoUCSF Prenatal Enzyme Replacement Therapy for Lysosomal Storage Diseases ...
- +44 more links
Professional skills
Clinical audit
- VideoHow to write an AUDIT - Medical edition14:43
- VideoClinical Audit - What You Need to Know to ACE Your Interview or Exam5:13
- +66 more links