6.P7 — Genetics

Items

• 73287

  The study of the whole of every chromosome by cytogenetic or other techniques...
• 73289

  The study of the whole of every chromosome by cytogenetic or other techniques...
• 73290

  The study of the whole of each chromosome by cytogenetic or other techniques,...
• 73291

  Analysis of one or more chromosome regions for specific constitutional geneti...
• 73292

  Analysis of chromosomes by genome-wide micro-array including targeted assessm...
• 73293

  Analysis of one or more regions on all chromosomes for specific constitutiona...
• 73294

  Analysis of the PMP22 gene for constitutional genetic abnormalities causing p...
• 73295

  Detection of germline BRCA1 or BRCA2 pathogenic or likely pathogenic gene var...
• 73296

  Characterisation of germline gene variants, including copy number variation w...
• 73297

  Characterisation of germline gene variants, including copy number variation w...
• 73298

  Characterisation of germline gene variants in the following genes: (a) COL4A3...
• 73299

  Characterisation of germline gene variants: (a) in the following genes: (i) C...
• 73300

  Detection of mutation of the FMR1 gene where: (a) the patient exhibits intell...
• 73301

  A test of tumour tissue from a patient with advanced (FIGO III-IV), high grad...
• 73302

  Characterisation of germline gene variants including copy number variants, in...
• 73303

  A test of tumour tissue from a patient with metastatic castration-resistant p...
• 73304

  Detection of germline BRCA1 or BRCA2 pathogenic or likely pathogenic gene var...
• 73305

  Detection of mutation of the FMR1 gene by Southern Blot analysis where the re...
• 73306

  Gene expression profiling testing using EndoPredict, for the purpose of profi...
• 73307

  A test of tumour tissue from a patient with advanced (FIGO III-IV), high-grad...
• 73308

  Characterisation of the genotype of a patient for Factor V Leiden gene mutati...
• 73309

  A test described in item 73308, if rendered by a receiving APP - 1 or more te...
• 73310

  Measurable residual disease (MRD) testing by next-generation sequencing, perf...
• 73311

  Characterisation of the genotype of a person who is a first degree relative o...
• 73312

  A test described in item 73311, if rendered by a receiving APP - 1 or more te...
• 73313

  Development of a quantitative patient‑specific molecular assay for measurable...
• 73314

  Characterisation of gene rearrangement or the identification of mutations wit...
• 73315

  A test described in item 73314, if rendered by a receiving APP - 1 or more te...
• 73316

  Measurable residual disease (MRD) testing by a quantitative patient-specific ...
• 73317

  Detection of the C282Y genetic mutation of the HFE gene and, if performed, de...
• 73318

  A test described in item 73317, if rendered by a receiving APP - 1 or more te...
• 73319

  Detection in tumour tissue of isocitrate dehydrogenase 1 (IDH1) variant statu...
• 73320

  Detection of HLA-B27 by nucleic acid amplification includes a service describ...
• 73321

  A test described in item 73320, if rendered by a receiving APP - 1 or more te...
• 73323

  Determination of HLAB5701 status by molecular techniques prior to the initiat...
• 73324

  A test described in item 73323 if rendered by a receiving APP 1 or more tests...
• 73325

  Determination of JAK2 V617F variant allele frequency in the diagnostic work‑u...
• 73326

  Characterisation of the gene rearrangement FIP1L1-PDGFRA in the diagnostic wo...
• 73327

  Detection of genetic polymorphisms in the Thiopurine S-methyltransferase gene...
• 73332

  An in situ hybridization (ISH) test of tumour tissue from a patient with brea...
• 73333

  Detection of germline mutations of the von Hippel‑Lindau (VHL) gene: (a) in a...
• 73334

  Detection of germline mutations of the von Hippel-Lindau (VHL) gene in biolog...
• 73335

  Detection of somatic mutations of the von Hippel-Lindau (VHL) gene in a patie...
• 73336

  A test of tumour tissue from a patient with stage III or stage IV metastatic ...
• 73337

  A test of tumour tissue from a patient with a new diagnosis of non‑small cell...
• 73338

  A test of tumour tissue from a patient with metastatic colorectal cancer (sta...
• 73339

  Detection of germline mutations in the RET gene in patients with a suspected ...
• 73340

  Detection of a known mutation in the RET gene in an asymptomatic relative of ...
• 73341

  Fluorescence in situ hybridisation (FISH) test of tumour tissue from a patien...
• 73342

  An in situ hybridisation (ISH) test of tumour tissue from a patient with meta...
• 73343

  Detection of 17p chromosomal deletions, in a patient with chronic lymphocytic...
• 73344

  Fluorescence in situ hybridization (FISH) test of tumour tissue from a patien...
• 73345

  Testing of a patient for pathogenic cystic fibrosis transmembrane conductance...
• 73346

  Testing of a pregnant patient whose carrier status for pathogenic cystic fibr...
• 73347

  Testing of a prospective parent for pathogenic cystic fibrosis transmembrane ...
• 73348

  Testing of a patient with a laboratory-established family history of pathogen...
• 73349

  Testing of a patient for pathogenic cystic fibrosis transmembrane conductance...
• 73350

  Testing of a pregnant patient, where one or both prospective parents are know...
• 73351

  A test of tumour tissue that is derived from a new sample from a patient with...
• 73352

  Characterisation of germline variants causing familial hypercholesterolaemia ...
• 73353

  Detection of a familial mutation for a patient who has a first- or second-deg...
• 73354

  Characterisation of germline gene variants, including copy number variation, ...
• 73355

  Characterisation of germline gene variants, including copy number variation, ...
• 73356

  Characterisation of germline gene variants, including copy number variation, ...
• 73357

  Characterisation of germline gene variants, including copy number variation, ...
• 73358

  Characterisation, via whole exome or genome sequencing and analysis, of germl...
• 73359

  Characterisation, via whole exome or genome sequencing and analysis, of germl...
• 73360

  Re-analysis of whole exome or genome data obtained in performing a service to...
• 73361

  Testing of a person (the person tested) for the detection of a single gene va...
• 73362

  Testing of a person (the person tested) for the detection of a single gene va...
• 73363

  Testing of a person (the person tested) for the detection of a single gene va...
• 73364

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73365

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73366

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73367

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73368

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73369

  Analysis of blood or bone marrow, requested by a specialist or consultant phy...
• 73370

  Analysis of blood or bone marrow, requested by a specialist or consultant phy...
• 73371

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73372

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73373

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73374

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73375

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73376

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73377

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73378

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73379

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73380

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73381

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73382

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73383

  Analysis of tumour tissue, requested by a specialist or consultant physician,...
• 73384

  Genetic analysis, for a patient who is eligible for this service under clause...
• 73385

  Genetic analysis, for a patient who is eligible for this service under clause...
• 73386

  Genetic analysis, for a patient who is eligible for this service under clause...
• 73387

  Genetic analysis, for a patient who is eligible for this service under clause...
• 73388

  Analysis of chromosomes by genome‑wide microarray, of a sample from amniocent...
• 73389

  Analysis of products of conception from a patient with suspected hydatidiform...
• 73391

  Analysis of chromosomes by genome‑wide microarray in diagnostic studies of a ...
• 73392

  Characterisation of pathogenic or likely pathogenic germline gene variants, r...
• 73393

  Characterisation of one or more pathogenic or likely pathogenic germline gene...
• 73394

  Characterisation of one or more recessive pathogenic or likely pathogenic ger...
• 73395

  Re‑analysis of whole exome or genome data that is obtained in performing a se...
• 73396

  Characterisation of variants in the JAK2 exon 12 in the diagnostic work‑up of...
• 73397

  Characterisation of variants in both the CALR and MPL genes in the diagnostic...
• 73398

  Characterisation of variants in at least 8 genes, which must include all of t...
• 73399

  Characterisation of variants in at least 20 genes, which must include all of ...
• 73401

  Characterisation, by whole exome or genome sequencing and analysis, of germli...
• 73402

  Characterisation, by whole exome or genome sequencing and analysis, of germli...
• 73403

  Re‑analysis of genetic data obtained in performing a service to which item 73...
• 73404

  Detection of a single gene variant in a patient, if: (a) the service is reque...
• 73405

  Detection of one or more variants of a single gene known to cause heritable k...
• 73406

  Testing of a pregnant patient, for the purpose of determining whether monogen...
• 73410

  Deletion testing of HBA1 and HBA2 for: (a) the diagnosis of alpha thalassaemi...
• 73411

  Sequencing of HBA1 or HBA2, if the results of deletion testing described in i...
• 73412

  Deletion testing of HBA1 and HBA2, if the results of deletion testing describ...
• 73413

  Non‑deletion testing of HBA1 and HBA2 using techniques other than sequencing,...
• 73416

  Detection of germline gene variants, including copy number variation, request...
• 73417

  Characterisation of one or more pathogenic or likely pathogenic germline gene...
• 73418

  Characterisation of one or more recessive pathogenic or likely pathogenic ger...
• 73419

  Re‑analysis of whole exome or genome data that was obtained in performing a s...
• 73420

  Non‑invasive prenatal testing of blood from an RhD negative pregnant patient ...
• 73421

  Non-invasive prenatal testing of blood from an RhD negative pregnant patient ...
• 73422

  Characterisation of a gene variant or gene variants using a gene panel, in a ...
• 73423

  Detection of a single identified gene variant, in a biological relative of a ...
• 73424

  Prenatal detection of an actionable pathogenic familial gene variant or gene ...
• 73425

  Prenatal detection of unknown gene variants (including maternal cell contamin...
• 73426

  Prenatal detection of unknown gene variants (including maternal cell contamin...
• 73427

  Single gene testing for the characterisation of a germline gene variant or ge...
• 73428

  Re‑analysis of whole genome or exome data obtained in performing a service de...
• 73429

  Genetic testing (including characterisation of single nucleotide variants, st...
• 73430

  Fluorescence in-situ hybridisation (FISH) test of tumour tissue from a patien...
• 73431

  Two tests described in item 73430
• 73432

  Three or more tests described in item 73430
• 73433

  Next generation sequencing (NGS) test for neurotrophic receptor tyrosine kina...
• 73434

  Detection of pathogenic or likely pathogenic gene variants, requested by a sp...
• 73435

  Detection of pathogenic or likely pathogenic DUX4 gene variants, requested by...
• 73436

  A test of tumour tissue from a patient with a new diagnosis of locally advanc...
• 73437

  A nucleic acid-based multi-gene panel test of tumour tissue from a patient wi...
• 73438

  A DNA-based multi-gene panel test of tumour tissue from a patient with a new ...
• 73439

  A nucleic acid-based multi-gene panel test of tumour tissue from a patient wi...
• 73440

  Genomic testing and copy number variant analysis of genes known to be causati...
• 73441

  Genomic testing and copy number variant analysis of relevant genes known to b...
• 73442

  Re-analysis of whole exome or genome data obtained under a service to which i...
• 73443

  Characterisation of one or more familial germline gene variants known to be c...
• 73444

  Characterisation of all germline variants in one or more genes known to cause...
• 73445

  Characterisation of a variant or variants in a panel of at least 25 genes usi...
• 73446

  Characterisation of a variant or variants in a panel of at least 25 genes usi...
• 73447

  Characterisation of a variant or variants in a panel of at least 25 genes usi...
• 73448

  Characterisation of a variant or variants in a panel of at least 25 genes usi...
• 73451

  Testing of a patient (who is pregnant or planning pregnancy) to identify carr...
• 73452

  Testing of the reproductive partner of a patient who has been found to be a c...
• 73453

  Characterisation of germline pathogenic or likely pathogenic gene variants: (...
• 73454

  Whole gene sequencing of a gene or genes described in item 73453, in a patien...
• 73455

  Testing of a pregnant patient, if at least one prospective parent is known to...
• 73456

  Characterisation by whole genome sequencing, or by either or both whole exome...
• 73457

  Characterisation by whole genome sequencing, or either or both whole exome se...
• 73458

  Re-analysis of whole genome or whole exome or mitochondrial DNA data obtained...
• 73459

  Testing for diagnostic purposes of a pregnant patient, for detection in the f...
• 73460

  Characterisation of mitochondrial DNA deletion or variant for diagnostic purp...
• 73461

  Whole gene testing of a person for the characterisation of all germline gene ...
• 73462

  Testing of a person for the detection of a single gene variant, if: (a) the p...