Rare Disease Forum by Genetidoc Genetic Clinic | Site-Wide Activity https://genetidoc.com/rarediseaseforum/activity/ Activity feed for the entire site. Wed, 23 Sep 2026 04:22:01 +0530 https://buddypress.org/?v= en-US 30 hourly 2 9120605f9a1251dc659be4b695b34f04 Genetic Counselor replied to the topic What is cascade testing, why is my doctor asking me to share my genetic result? in the forum Cascade Testing https://genetidoc.com/rarediseaseforum/forums/topic/what-is-cascade-testing-why-is-my-doctor-asking-me-to-share-my-genetic-result-2/#post-1024 Wed, 23 Sep 2026 04:21:59 +0530 Cascade testing is the process of offering genetic counseling and testing to the blood relatives of a person who has been found to carry a disease-causing genetic change. The first person in the family to be diagnosed is called the index patient. Once the exact genetic change in the index patient is known, relatives can be checked for that one…Read more

]]> a1f71693561bef40cae6463b894bd1b6 Genetic Counselor replied to the topic Which of my relatives should have cascade testing, and who should go first? in the forum Cascade Testing https://genetidoc.com/rarediseaseforum/forums/topic/which-of-my-relatives-should-have-cascade-testing-and-who-should-go-first/#post-1023 Wed, 23 Sep 2026 04:21:15 +0530 In general, cascade testing starts with first-degree relatives: parents, brothers and sisters, and children. Each of these relatives shares about half of your DNA. If a first-degree relative has died or cannot be reached, testing moves to second-degree relatives: grandparents, aunts and uncles, nieces and nephews, and half-siblings. When a…Read more

]]> ef279bcb82a42fb003e0d7ac7ce74491 Genetic Counselor replied to the topic How is cascade testing done, and what does a positive or negative result mean fo in the forum Cascade Testing https://genetidoc.com/rarediseaseforum/forums/topic/how-is-cascade-testing-done-and-what-does-a-positive-or-negative-result-mean-fo/#post-1022 Wed, 23 Sep 2026 04:19:46 +0530 Cascade testing is usually simpler, faster, and less expensive than the first test in the family. The index patient’s test often looked at many genes at once, searching for an unknown change. For a relative, the laboratory already knows exactly what to look for. It checks only that one specific change, at that one position in the DNA. This is…Read more

]]> 79b29816a788f74078f386644fb6e10d Genetic Counselor replied to the topic Should my children be included in cascade testing, and at what age? in the forum Cascade Testing https://genetidoc.com/rarediseaseforum/forums/topic/should-my-children-be-included-in-cascade-testing-and-at-what-age/#post-1021 Wed, 23 Sep 2026 04:18:04 +0530 This depends on whether knowing the result would change anything for the child during childhood. Professional guidelines, including those from the American Society of Human Genetics and the European Society of Human Genetics, follow one main principle: test children when there is a medical benefit in childhood, and otherwise wait until they can…Read more

]]> aa00d94eb1b36d47320f1a746e7cd3fb Genetic Counselor replied to the topic How do I tell my family about cascade testing, and what if they do not want to k in the forum Cascade Testing https://genetidoc.com/rarediseaseforum/forums/topic/how-do-i-tell-my-family-about-cascade-testing-and-what-if-they-do-not-want-to-k/#post-1020 Wed, 23 Sep 2026 04:17:18 +0530 Telling relatives is often the hardest part. Research shows that many at-risk relatives are never tested. A 2022 review combining many studies of hereditary cancer families found that when patients were left to inform relatives on their own, only about 36 in every 100 relatives went on to have testing. When the medical team contacted relatives…Read more

]]> af26a2548ff8f848b4f3a2b935ab4840 Anonymous started the topic How do I tell my family about cascade testing, and what if they do not want to k in the forum Cascade Testing https://genetidoc.com/rarediseaseforum/forums/topic/how-do-i-tell-my-family-about-cascade-testing-and-what-if-they-do-not-want-to-k/?view=all Wed, 23 Sep 2026 04:15:52 +0530 How do I tell my family about cascade testing, and what if they do not want to know?

]]> bbb00f83b40e28d2086054ed9b7304d0 Anonymous started the topic Should my children be included in cascade testing, and at what age? in the forum Cascade Testing https://genetidoc.com/rarediseaseforum/forums/topic/should-my-children-be-included-in-cascade-testing-and-at-what-age/?view=all Wed, 23 Sep 2026 04:15:27 +0530 Should my children be included in cascade testing, and at what age?

]]> c252e45747a66cdcbf397c6e705551cc Anonymous started the topic How is cascade testing done, and what does a positive or negative result mean fo in the forum Cascade Testing https://genetidoc.com/rarediseaseforum/forums/topic/how-is-cascade-testing-done-and-what-does-a-positive-or-negative-result-mean-fo/?view=all Wed, 23 Sep 2026 04:14:55 +0530 How is cascade testing done, and what does a positive or negative result mean for my relative?

]]> 7f5be5a681eb5afe0f04fba8c88e173c Anonymous started the topic Which of my relatives should have cascade testing, and who should go first? in the forum Cascade Testing https://genetidoc.com/rarediseaseforum/forums/topic/which-of-my-relatives-should-have-cascade-testing-and-who-should-go-first/?view=all Wed, 23 Sep 2026 04:14:37 +0530 Which of my relatives should have cascade testing, and who should go first?

]]> 113fa52d47e68da1378daa1cdd7175fb Anonymous started the topic What is cascade testing, why is my doctor asking me to share my genetic result? in the forum Cascade Testing https://genetidoc.com/rarediseaseforum/forums/topic/what-is-cascade-testing-why-is-my-doctor-asking-me-to-share-my-genetic-result-2/ Wed, 23 Sep 2026 04:13:58 +0530 What is cascade testing, and why is my doctor asking me to share my genetic result with my family?

]]> 98392ddf7ded64cedba85e1e820fd5b0 Genetic Counselor replied to the topic What is beta-thalassemia, and what causes it? in the forum Beta-thalassemia https://genetidoc.com/rarediseaseforum/forums/topic/what-is-beta-thalassemia-and-what-causes-it/#post-1006 Mon, 21 Sep 2026 05:47:11 +0530 Beta-thalassemia is a genetic condition in which the body cannot make enough of a protein called beta-globin, one of the building blocks of haemoglobin, the molecule inside red blood cells that carries oxygen throughout the body. Without enough beta-globin, red blood cells cannot be built or maintained properly, and this leads to anaemia — a s…Read more

]]> caa540f41f8246a65dddb9295f505e4a Genetic Counselor replied to the topic What are the signs and symptoms of beta-thalassemia, and how is it diagnosed? in the forum Beta-thalassemia https://genetidoc.com/rarediseaseforum/forums/topic/what-are-the-signs-and-symptoms-of-beta-thalassemia-and-how-is-it-diagnosed/#post-1005 Mon, 21 Sep 2026 05:46:07 +0530 Beta-thalassemia is generally grouped into three levels of severity, and the level a person falls into depends on how much functional beta-globin their particular combination of HBB variants still allows.

• Beta-thalassemia major, also called Cooley’s anaemia. This is the most severe form, usually noticed between six and twenty-four months of a…Read more

]]> 2a21d33f884fb71e2f2b6eb3e1a58ced Genetic Counselor replied to the topic Is beta-thalassemia inherited? in the forum Beta-thalassemia https://genetidoc.com/rarediseaseforum/forums/topic/is-beta-thalassemia-inherited/#post-1004 Mon, 21 Sep 2026 05:44:30 +0530 Yes, beta-thalassemia is inherited in an autosomal recessive pattern, meaning a person needs a change in both of their two copies of the HBB gene — one inherited from each parent — to have the disease itself.

A person who inherits an altered copy from only one parent is called a carrier, or is said to have beta-thalassemia trait. Carriers gen…Read more

]]> 903ee30002b2cdb91a685f15e37c1c9f Genetic Counselor replied to the topic What treatments are available for beta-thalassemia? in the forum Beta-thalassemia https://genetidoc.com/rarediseaseforum/forums/topic/what-treatments-are-available-for-beta-thalassemia/#post-1003 Mon, 21 Sep 2026 05:41:33 +0530 Treatment for beta-thalassemia depends heavily on severity, ranging from no treatment at all for most carriers to intensive, lifelong care for beta-thalassemia major.

• Regular blood transfusions. For beta-thalassemia major, transfusions every two to five weeks are the foundation of treatment, keeping haemoglobin high enough to support normal g…Read more

]]> 586e8aba3f0dfd9c3b8cfd56cee8b7e8 Genetic Counselor replied to the topic What is the long-term outlook for someone with beta-thalassemia, and what ongoin in the forum Beta-thalassemia https://genetidoc.com/rarediseaseforum/forums/topic/what-is-the-long-term-outlook-for-someone-with-beta-thalassemia-and-what-ongoin/#post-1002 Mon, 21 Sep 2026 05:39:43 +0530 The outlook for beta-thalassemia has improved enormously over recent decades and now depends heavily on consistent access to transfusion and iron chelation therapy. Individuals with beta-thalassemia major who receive regular transfusions together with effective iron chelation from early childhood onward can now expect to live well into adulthood,…Read more

]]> bf0edb5446b071937af129157b02d2d2 Anonymous started the topic What is the long-term outlook for someone with beta-thalassemia, and what ongoin in the forum Beta-thalassemia https://genetidoc.com/rarediseaseforum/forums/topic/what-is-the-long-term-outlook-for-someone-with-beta-thalassemia-and-what-ongoin/ Mon, 21 Sep 2026 05:36:08 +0530 What is the long-term outlook for someone with beta-thalassemia, and what ongoing monitoring is recommended?

]]> 4fd513cabec73417b10d680beb4a412b Anonymous started the topic What treatments are available for beta-thalassemia? in the forum Beta-thalassemia https://genetidoc.com/rarediseaseforum/forums/topic/what-treatments-are-available-for-beta-thalassemia/ Mon, 21 Sep 2026 05:35:47 +0530 What treatments are available for beta-thalassemia?

]]> bd9cc0e5074b7af14eb05239912d43dd Anonymous started the topic Is beta-thalassemia inherited? in the forum Beta-thalassemia https://genetidoc.com/rarediseaseforum/forums/topic/is-beta-thalassemia-inherited/ Mon, 21 Sep 2026 05:35:23 +0530 Is beta-thalassemia inherited, and what is the chance my other children or family members will be affected?

]]> b7c04750bf09bd43b0395cecbce131a9 Anonymous started the topic What are the signs and symptoms of beta-thalassemia, and how is it diagnosed? in the forum Beta-thalassemia https://genetidoc.com/rarediseaseforum/forums/topic/what-are-the-signs-and-symptoms-of-beta-thalassemia-and-how-is-it-diagnosed/ Mon, 21 Sep 2026 05:33:58 +0530 What are the signs and symptoms of beta-thalassemia, and how is it diagnosed?

]]> 4190fe85facdca1d1cd993a9bb439ac9 Anonymous started the topic What is beta-thalassemia, and what causes it? in the forum Beta-thalassemia https://genetidoc.com/rarediseaseforum/forums/topic/what-is-beta-thalassemia-and-what-causes-it/ Mon, 21 Sep 2026 05:33:44 +0530 What is beta-thalassemia, and what causes it?

]]> a034872d29d653da0c25322683769974 Genetic Counselor replied to the topic What can whole genome sequencing check that is not detected by whole exome seq in the forum Whole Genome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/who-actually-needs-whole-genome-sequencing-and-when-is-it-done-as-a-trio-with/#post-992 Sat, 19 Sep 2026 10:28:01 +0530 Because whole genome sequencing reads virtually the entire genetic code rather than only the coding exome, it can pick up several categories of genetic change that whole exome sequencing is not designed to see well:

• Structural rearrangements, such as inversions, where a segment of a chromosome is flipped or repositioned without any genetic m…Read more

]]> bda3916fa19c537e8be5b9184f64fc89 Genetic Counselor replied to the topic What is whole genome sequencing, and why has my doctor recommended it? in the forum Whole Genome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/what-is-whole-genome-sequencing-and-why-has-my-doctor-recommended-it/#post-991 Sat, 19 Sep 2026 09:39:49 +0530 Every cell in the body carries a complete set of genetic instructions, written in a long molecule called DNA, that runs to roughly three billion individual chemical letters. Only a small slice of this, called the exome, is actually translated into the proteins that build and run the body; the rest, sometimes loosely called “non-coding” DNA, was…Read more

]]> 64d858c67122a34cc82cc447fd27f14a Genetic Counselor replied to the topic How is whole genome sequencing actually done, and how is it different from whole in the forum Whole Genome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/how-is-whole-genome-sequencing-actually-done-and-how-is-it-different-from-whole/#post-990 Sat, 19 Sep 2026 09:35:03 +0530 To perform whole genome sequencing, a laboratory first extracts DNA from a blood or saliva sample and breaks it into millions of small, overlapping fragments. Unlike whole exome sequencing, this process skips the “capture” step in which chemical probes fish out only the coding fragments; instead, essentially all of the fragments, coding and…Read more

]]> 88e250fbbd3af8d910d339f23f9d2f44 Genetic Counselor replied to the topic How accurate is whole genome sequencing, and could it miss something or come bac in the forum Whole Genome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/how-accurate-is-whole-genome-sequencing-and-could-it-miss-something-or-come-bac/#post-989 Sat, 19 Sep 2026 09:30:22 +0530 When whole genome sequencing identifies a change in a gene that is already well understood and clearly matches a person’s symptoms, the finding is highly reliable. Across a recent meta-analysis pooling multiple clinical studies, whole genome sequencing identified a genetic cause in roughly 3-in-10 previously undiagnosed individuals overall,…Read more

]]> d6f250ad3606c20432862550bb8a8203 Genetic Counselor replied to the topic What happens after a whole genome sequencing result comes back? in the forum Whole Genome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/what-happens-after-a-whole-genome-sequencing-result-comes-back/#post-988 Sat, 19 Sep 2026 09:28:04 +0530 A whole genome sequencing result is generally reported in one of three ways: a genetic cause was clearly identified and explains the person’s symptoms; one or more variants of uncertain significance were found, meaning a real change exists but its significance is not yet clear; or no relevant genetic change was identified despite the breadth of…Read more

]]> d056a4672b68eddb30f1aad4804644e3 Anonymous started the topic What happens after a whole genome sequencing result comes back? in the forum Whole Genome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/what-happens-after-a-whole-genome-sequencing-result-comes-back/ Sat, 19 Sep 2026 09:24:17 +0530 What happens after a whole genome sequencing result comes back?

]]> 348530562136141bb6ef950b9d26fd24 Anonymous started the topic How accurate is whole genome sequencing, and could it miss something or come bac in the forum Whole Genome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/how-accurate-is-whole-genome-sequencing-and-could-it-miss-something-or-come-bac/ Sat, 19 Sep 2026 09:23:05 +0530 How accurate is whole genome sequencing, and could it miss something or come back unclear?

]]> a2f4c18c877c51c477b41742aaa0e03d Anonymous started the topic What can whole genome sequencing check that is not detected by whole exome seq in the forum Whole Genome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/who-actually-needs-whole-genome-sequencing-and-when-is-it-done-as-a-trio-with/ Sat, 19 Sep 2026 09:22:31 +0530 Who actually needs whole genome sequencing, and when is it done as a “trio” with both parents?

]]> eadf15c51e968b9cfa71cf06dee6bf74 Anonymous started the topic How is whole genome sequencing actually done, and how is it different from whole in the forum Whole Genome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/how-is-whole-genome-sequencing-actually-done-and-how-is-it-different-from-whole/ Sat, 19 Sep 2026 09:21:20 +0530 How is whole genome sequencing actually done, and how is it different from whole exome sequencing or a chromosomal microarray?

]]> 08d3c6aed5a4771269c3345ad6fe02b9 Anonymous started the topic What is whole genome sequencing, and why has my doctor recommended it? in the forum Whole Genome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/what-is-whole-genome-sequencing-and-why-has-my-doctor-recommended-it/ Sat, 19 Sep 2026 09:20:42 +0530 What is whole genome sequencing, and why has my doctor recommended it?

]]> b7f05a0c2e6dfc4f933e5ac24eb46cab Genetic Counselor replied to the topic What is whole exome sequencing, and why has my doctor recommended it? in the forum Whole Exome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/what-is-whole-exome-sequencing-and-why-has-my-doctor-recommended-it/#post-982 Fri, 18 Sep 2026 08:05:53 +0530 Every cell in the body carries the same complete set of genetic instructions, written in a long molecule called DNA. Only a small part of this instruction set, called the exome, is actually translated into the proteins that build and run the body; this coding portion makes up roughly 180,000 short stretches of DNA, called exons, spread across an…Read more

]]> 1f7ac6814c4b1d6c18d2f9d21a82f91e Genetic Counselor replied to the topic How is whole exome sequencing actually done, and how is it different other test? in the forum Whole Exome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/how-is-whole-exome-sequencing-actually-done-and-how-is-it-different-other-test/#post-981 Fri, 18 Sep 2026 08:04:40 +0530 To perform whole exome sequencing, a laboratory first extracts DNA from a blood or saliva sample and breaks it into millions of small fragments. Because the coding exome makes up only a tiny slice of the total genetic code, the laboratory then uses a step called exome capture, in which chemical probes are used to fish out specifically the…Read more

]]> 4d665c561f2d65d0e4f95e8ed9d1de73 Genetic Counselor replied to the topic Who actually needs whole exome sequencing, when is it done as a "trio" ? in the forum Whole Exome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/who-actually-needs-whole-exome-sequencing-when-is-it-done-as-a-trio/#post-980 Fri, 18 Sep 2026 08:04:01 +0530 Whole exome sequencing is used across several distinct clinical situations, unified by the fact that a broad, unbiased search across the coding genome offers a realistic chance of an answer where testing genes one at a time does not:

• Children with unexplained developmental delay, intellectual disability, or multiple congenital anomalies. B…Read more

]]> 96b4baaaaafe302c4d3af2722e8c20dc Genetic Counselor replied to the topic How accurate is whole exome sequencing, and could it miss something or come back in the forum Whole Exome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/how-accurate-is-whole-exome-sequencing-and-could-it-miss-something-or-come-back/#post-979 Fri, 18 Sep 2026 08:02:59 +0530 When whole exome sequencing identifies a change in a gene that is already well understood and clearly matches a person’s symptoms, the finding is highly reliable. Across large studies, whole exome sequencing identifies a clear genetic cause in roughly 2-in-10 to 3-in-10 previously undiagnosed individuals tested for a suspected genetic condition;…Read more

]]> f57c6fa2c1f098b4f9dd6398e311dd23 Genetic Counselor replied to the topic What happens after a whole exome sequencing result comes back? in the forum Whole Exome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/what-happens-after-a-whole-exome-sequencing-result-comes-back/#post-978 Fri, 18 Sep 2026 08:00:05 +0530 A whole exome sequencing result is generally reported in one of three ways: a genetic cause was clearly identified and explains the person’s symptoms; one or more variants of uncertain significance were found, meaning a real change exists but its significance is not yet clear; or no relevant genetic change was identified in the coding regions…Read more

]]> 0b7ebc55bfde26a8b6ac7a649c0dd20b Genetic Counselor replied to the topic What is PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements), in the forum Preimplantation Genetic Testing - Structural Rearrangements https://genetidoc.com/rarediseaseforum/forums/topic/what-is-pgt-sr-preimplantation-genetic-testing-for-structural-rearrangements/#post-977 Fri, 18 Sep 2026 07:58:13 +0530 Preimplantation Genetic Testing for Structural Rearrangements is a laboratory test performed on embryos created through in vitro fertilization, used to check whether an embryo has inherited a chromosome imbalance linked to a rearrangement already known to be present in a parent. Unlike Preimplantation Genetic Testing for Monogenic Disorders, which…Read more

]]> 23e9e84348139d57eda3e67b512bf7fc Anonymous started the topic What happens after a whole exome sequencing result comes back? in the forum Whole Exome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/what-happens-after-a-whole-exome-sequencing-result-comes-back/ Fri, 18 Sep 2026 05:10:08 +0530 What happens after a whole exome sequencing result comes back, and is this testing available in India?

]]> 028f3fb99339c3fee4751136ce11721e Anonymous started the topic How accurate is whole exome sequencing, and could it miss something or come back in the forum Whole Exome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/how-accurate-is-whole-exome-sequencing-and-could-it-miss-something-or-come-back/ Fri, 18 Sep 2026 05:09:41 +0530 How accurate is whole exome sequencing, and could it miss something or come back unclear?

]]> 16e9f0d58770fe01ad24630911f6ebb9 Anonymous started the topic Who actually needs whole exome sequencing, when is it done as a "trio" ? in the forum Whole Exome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/who-actually-needs-whole-exome-sequencing-when-is-it-done-as-a-trio/ Fri, 18 Sep 2026 05:09:20 +0530 Who actually needs whole exome sequencing, and when is it done as a “trio” with both parents?

]]> 244f9f41d17335a274a9219f175e2639 Anonymous started the topic How is whole exome sequencing actually done, and how is it different other test? in the forum Whole Exome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/how-is-whole-exome-sequencing-actually-done-and-how-is-it-different-other-test/ Fri, 18 Sep 2026 05:08:55 +0530 How is whole exome sequencing actually done, and how is it different from a gene panel or whole genome sequencing?

]]> e04feddaef2c880d83cdf03dbcf66b99 Anonymous started the topic What is whole exome sequencing, and why has my doctor recommended it? in the forum Whole Exome Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/what-is-whole-exome-sequencing-and-why-has-my-doctor-recommended-it/ Fri, 18 Sep 2026 05:08:23 +0530 What is whole exome sequencing, and why has my doctor recommended it?

]]> 4a05b52fd7ca6f2987f224fc7a1933d1 Genetic Counselor replied to the topic What is NGS (Next-Generation Sequencing) testing, why is it recommended? in the forum Next Generation Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/what-is-ngs-next-generation-sequencing-testing-why-is-it-recommended/#post-971 Thu, 17 Sep 2026 05:24:45 +0530 Next-generation sequencing is a laboratory approach that reads the actual letters of a person’s genetic code, the DNA that carries the instructions for how the body is built and runs. Older sequencing methods could realistically read one gene, or a handful of genes, at a time, which meant a doctor had to guess correctly which single gene to test…Read more

]]> ac2cb677cac97274e729ac4d1350c263 Genetic Counselor replied to the topic How does NGS actually read my DNA, and how is it different from other tests? in the forum Next Generation Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/how-does-ngs-actually-read-my-dna-and-how-is-it-different-from-other-tests/#post-970 Thu, 17 Sep 2026 05:24:11 +0530 To perform next-generation sequencing, a laboratory first extracts DNA from a blood or saliva sample and breaks it into millions of small, overlapping fragments. Each fragment is chemically prepared and then read by a sequencing machine, which determines the exact order of the four chemical building blocks, represented by the letters A, T, C, and…Read more

]]> 79404cbaa37432404fff66f093233fd1 Genetic Counselor replied to the topic Who actually needs NGS testing ? in the forum Next Generation Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/who-actually-needs-ngs-testing/#post-969 Thu, 17 Sep 2026 05:22:44 +0530 Next-generation sequencing is used across a wide range of clinical situations, unified by the fact that many different genes could plausibly explain what is being seen:

• Children with unexplained developmental delay, intellectual disability, or autism. Because well over one thousand different genes have been linked to these presentations, t…Read more

]]> e9ea9b05639f4c82304601b0c3152efb Genetic Counselor's profile was updated https://genetidoc.com/rarediseaseforum/activity/p/645/ Thu, 17 Sep 2026 05:20:03 +0530 0 2902857a07542a1eec8fd5a41c426306 Genetic Counselor replied to the topic How accurate is NGS testing and could it come back with an unclear result? in the forum Next Generation Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/how-accurate-is-ngs-testing-and-could-it-come-back-with-an-unclear-result/#post-968 Thu, 17 Sep 2026 05:19:23 +0530 When next-generation sequencing finds a change in a gene that is already well understood and clearly linked to a person’s symptoms, it is highly accurate and reliable. However, families should understand from the outset that a genetic diagnosis is not guaranteed even with the broadest form of this testing. Across large clinical studies, whole…Read more

]]> b32cc45495e73a006f672497dd1ba9a5 Genetic Counselor replied to the topic What happens after an NGS result comes back, and is this testing available in In in the forum Next Generation Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/what-happens-after-an-ngs-result-comes-back-and-is-this-testing-available-in-in/#post-967 Thu, 17 Sep 2026 05:05:10 +0530 A next-generation sequencing result is generally reported in one of three ways: a genetic cause was clearly identified and explains the person’s symptoms; one or more variants of uncertain significance were found, meaning a change exists but its significance is not yet clear; or no relevant genetic change was identified in the genes or regions…Read more

]]> 24727f6a30f5f84ac1a3605f7a7f487f Anonymous started the topic What happens after an NGS result comes back, and is this testing available in In in the forum Next Generation Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/what-happens-after-an-ngs-result-comes-back-and-is-this-testing-available-in-in/ Thu, 17 Sep 2026 04:56:07 +0530 What happens after an NGS result comes back, and is this testing available in India?

]]> 96f1d6f23c827c740142f9137f640ee2 Anonymous started the topic How accurate is NGS testing and could it come back with an unclear result? in the forum Next Generation Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/how-accurate-is-ngs-testing-and-could-it-come-back-with-an-unclear-result/ Thu, 17 Sep 2026 04:55:39 +0530 How accurate is NGS testing, and could it come back with a result that doesn’t fully answer my question?

]]> a96b9b7a6d475c53a109b3f5a96684f7 Anonymous started the topic Who actually needs NGS testing ? in the forum Next Generation Sequencing https://genetidoc.com/rarediseaseforum/forums/topic/who-actually-needs-ngs-testing/ Thu, 17 Sep 2026 04:40:16 +0530 Who actually needs NGS testing — is it only for children with developmental problems, or is it used for other conditions too?

]]>