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The 107 pages that link to Genetic testing, each with the reason it gives.

• Charcot–Marie–Tooth diseaseRelated: Testing can confirm a CMT subtype and clarify inheritance within a family.

• Cockayne syndromeRelated: Testing ERCC6 and ERCC8 can confirm many suspected cases and support family counseling.

• Congenital insensitivity to painRelated: Testing can distinguish causes such as NTRK1, SCN9A, PRDM12, and NGF variants.

• Crouzon syndromeRelated: Testing can confirm an FGFR2-related diagnosis and inform family counseling.

• Dravet syndromeRelated: Testing for SCN1A variants can help confirm the diagnosis and guide counseling.

• Epidermolysis bullosaRelated: Testing can confirm an EB diagnosis and clarify its subtype and inheritance.

• Gitelman syndromeRelated: Testing SLC12A3 can confirm the inherited cause when clinical findings suggest Gitelman syndrome.

• IchthyosisRelated: A gene result can confirm a suspected inherited subtype and clarify inheritance.

• Leigh syndromeRelated: Testing can identify the causal gene and clarify inheritance for affected families.

• Lennox–Gastaut syndromeRelated: Testing can uncover a cause in some cases and may guide care or family counseling.

• Myotonic dystrophyRelated: It can confirm the diagnosis and distinguish type 1 from type 2.

• Pfeiffer syndromeRelated: Testing FGFR1 and FGFR2 can confirm a suspected molecular cause.

• Rotor syndromeRelated: Testing SLCO1B1 and SLCO1B3 can confirm the inherited transporter defect.

• Sotos syndromeRelated: Testing can confirm an NSD1 variant or deletion in a person with suggestive features.

• Usher syndromeRelated: Testing can confirm an Usher diagnosis, identify its subtype, and inform family counseling.

• Alagille syndromeRelated: Testing JAG1 and NOTCH2 can support diagnosis and clarify inheritance.

• Alström syndromeRelated: Molecular testing can confirm the diagnosis and clarify familial variants.

• AniridiaRelated: Testing can confirm a PAX6-related diagnosis and inform family counseling.

• Becker muscular dystrophyRelated: Testing DMD can confirm the diagnosis and guide family counseling.

• Blood testCompared with: Blood may supply the sample, but the target is genetic material rather than routine blood composition.

• Focal segmental glomerulosclerosisRelated: Genetic diagnoses can distinguish inherited podocyte disorders from presumed primary FSGS and change treatment decisions.

• Hereditary spastic paraplegiaRelated: Testing can establish a molecular diagnosis and clarify inheritance within a family.

• Joubert syndromeRelated: Testing can identify a causative gene and clarify inheritance within a family.

• MacrocephalyRelated: Testing may be considered when macrocephaly occurs with developmental differences or characteristic physical findings.

• Pelizaeus–Merzbacher diseaseRelated: Testing PLP1 can confirm the molecular diagnosis and clarify inheritance.

• Peutz–Jeghers syndromeRelated: Testing can confirm an STK11-related diagnosis and guide family assessment.

• Refsum diseaseRelated: Testing PHYH and PEX7 can confirm the molecular cause and support family testing.

• Von Hippel–Lindau diseaseRelated: Testing can confirm a diagnosis and identify relatives who need VHL-specific surveillance.

• AbetalipoproteinemiaRelated: Finding pathogenic MTTP variants can confirm the diagnosis and support family counseling.

• Diamond–Blackfan anemiaRelated: Testing can confirm a molecular cause, guide family counseling, and distinguish related marrow disorders.

• Dominant traitRelated: Testing can identify alleles associated with dominantly inherited traits.

• Familial Mediterranean feverRelated: MEFV testing can support diagnosis, though a negative result does not always exclude the disease.

• LissencephalyRelated: Testing can identify the genetic cause and inform recurrence-risk counseling.

• Pantothenate kinase-associated neurodegenerationRelated: Finding disease-causing variants in both PANK2 copies can confirm the diagnosis.

• Rubinstein–Taybi syndromeRelated: Testing CREBBP and EP300 can confirm a suspected diagnosis.

• Tangier diseaseRelated: Testing ABCA1 can confirm the molecular diagnosis and support family counseling.

• Wolfram syndromeRelated: Testing WFS1 and, when appropriate, CISD2 can confirm a suspected molecular diagnosis.

• Barth syndromeRelated: Sequencing TAZ can confirm the molecular diagnosis and support family testing.

• CADASILRelated: Finding a pathogenic NOTCH3 variant is the primary way to confirm CADASIL.

• Central hypoventilation syndromeRelated: Testing PHOX2B can confirm congenital disease and inform family assessment.

• Cleidocranial dysostosisRelated: Testing can confirm a suspected diagnosis by detecting a pathogenic RUNX2 variant.

• Cornelia de Lange syndromeRelated: Testing can confirm a suspected diagnosis and identify a causal variant in many cases.

• Darier diseaseRelated: Testing ATP2A2 can confirm the molecular cause in some families.

• Fibrodysplasia ossificans progressivaRelated: Testing for a pathogenic ACVR1 variant can confirm a suspected diagnosis.

• Gerstmann–Sträussler–Scheinker syndromeRelated: Testing can confirm a suspected pathogenic PRNP variant in an affected person.

• Infantile epileptic spasms syndromeRelated: Testing can identify an underlying diagnosis when clinical assessment and imaging do not explain the spasms.

• Laron syndromeRelated: Testing can confirm pathogenic variants in the growth hormone receptor gene.

• Mark R. HughesNarrower topic: Hughes’s research helped make molecular diagnosis practical for inherited disorders.

• Neurofibromatosis type IIRelated: Testing can confirm an NF2-related diagnosis and inform family counseling.

• Pitt–Hopkins syndromeRelated: Testing can identify pathogenic TCF4 variants or deletions involving the gene.