{"title":"باقات الفحص الجيني المستهدفة","description":"","products":[{"product_id":"egtarone","title":"اختبار المتغيرات المستهدفة","description":"يركز الاختبار الجيني المستهدف للمتغيرات المعروفة بشكل خاص على تحديد وجود\n من متغير وراثي تم تحديده مسبقًا وتم وصفه جيدًا في الحمض النووي للمريض.\n يتم استخدام الاختبار عندما يشتبه في أن طفرة جينية معينة مسؤولة عن مرض معين\n الحالة الطبية. تم تصميم الاختبار للبحث عن اختلاف جيني محدد في حالة معينة\n الجين أو مجموعة الجينات، وكثيرا ما يستخدم عندما يكون السبب الوراثي للمرض قد تم اكتشافه بالفعل.  \nتم التعرف على هذه الحالة في أفراد آخرين من العائلة أو في دراسات بحثية سابقة. هذا النوع من الاختبارات\n يمكن أن يكون أسرع وأقل تكلفة من تسلسل الجينوم الكامل، ويمكن أن يوفر المزيد\n إجابة محددة ومركزة بشأن وجود أو عدم وجود متغير وراثي معين.\n أمثلة على الحالات التي يمكن أن تستفيد من الاختبار الجيني.\n 1. تشخيص الاضطرابات الوراثية الوراثية: يمكن أن يساعد التحليل الجيني المستهدف في تشخيص\n اضطراب وراثي محدد عن طريق اختبار متغير معروف مرتبط بالمرض.\n 2. اختبار الناقل: يمكن استخدام التحليل الجيني المستهدف لتحديد ما إذا كان الفرد حاملاً للجينات الوراثية.\n حامل لاضطراب وراثي، مما قد يكون له آثار على تنظيم الأسرة.\n 3. الاختبارات قبل الولادة: يمكن استخدام التحليل الجيني المستهدف للاختبارات قبل الولادة لتقييم\n خطر الإصابة باضطراب وراثي محدد في الجنين النامي.\n 4. تشخيص السرطان: يمكن أن يكون التحليل الجيني المستهدف مفيدًا في تشخيص بعض الأمراض\n أنواع السرطان عن طريق اختبار الطفرات الجينية المحددة المرتبطة بالمرض","brand":"Medical Genetics Company","offers":[{"title":"Default Title","offer_id":44974154613022,"sku":"EGTARONE","price":750.0,"currency_code":"SAR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtargen","title":"تحليل الجين الواحد","description":"تم تصميم تحليل الجين الفردي لإجراء تحليل التسلسل والحذف\/التكرار لجين واحد. يعد هذا الاختبار مثاليًا في الحالات التي يكون فيها النمط الظاهري واضحًا وهناك جين واحد يمكن أن يسبب النمط الظاهري. من الممكن إجراء اختبار على المزيد من الجينات.","brand":"Medical Genetics Company","offers":[{"title":"Default Title","offer_id":44974154678558,"sku":"EGTARGEN","price":1650.0,"currency_code":"SAR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-single_gene-v1.png?v=1793571425"},{"product_id":"egtarpnl","title":"لوحة الجينات المخصصة (ما يصل إلى 10 جينات)","description":"تم تصميم لوحة الجينات المخصصة لإجراء تحليل التسلسل والحذف\/التكرار لمجموعة مختارة من الجينات التي يمكن أن تسبب المرض. يعد هذا الاختبار مثاليًا للحالات التي يكون فيها النمط الظاهري واضحًا ولا يوجد سوى عدد قليل من مجموعات الجينات (أقل من 10) التي يمكن أن تسبب النمط الظاهري. من الممكن إجراء اختبار لعدد أكبر من الجينات.","brand":"Medical Genetics Company","offers":[{"title":"Default Title","offer_id":44974154776862,"sku":"EGTARPNL","price":2000.0,"currency_code":"SAR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-panel-v1.png?v=1793571432"},{"product_id":"egataxpnl","title":"Comprehensive Ataxia Package","description":"\u003cp\u003eIt is a comprehensive genetic testing service designed to identify genetic causes of hereditary ataxia and related neurological disorders. It combines genome-based analysis of 193 genes associated with ataxia using next-generation sequencing (NGS) with repeat-expansion analysis. Findings from both testing methods are consolidated into a single clinical report.\u003c\/p\u003e\u003cp\u003eAtaxias are a group of neurological disorders characterized by impaired coordination, balance difficulties, gait abnormalities, speech impairment, abnormal eye movements, and other neurological manifestations. These conditions may present during childhood or adulthood and can follow autosomal dominant, autosomal recessive, X-linked, or mitochondrial inheritance patterns.\u003c\/p\u003e\u003cp\u003eBy combining genome-based NGS analysis and repeat-expansion testing, the package enables the investigation of a broad range of genetic causes of ataxia, including sequence variants and repeat expansions that may not be reliably detected by standard NGS analysis alone.\u003c\/p\u003e\u003cp\u003eThe results may support clinical diagnosis, guide further investigations and clinical management, and provide valuable information for genetic counseling and family planning.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790439608606,"sku":"EGATAXPNL","price":6000.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egatxre","title":"Ataxia Repeat Expansion Analysis","description":"\u003cp\u003eAtaxia Repeat Expansion Analysis is a genetic test designed to identify pathogenic nucleotide repeat expansions associated with hereditary ataxia and related neurological disorders. The analysis targets specific genes and repeat regions associated with these conditions using validated repeat expansion detection methods.\u003cbr\u003eAtaxia and Repeat Expansion Analysis is a targeted molecular test designed to detect disease-associated nucleotide repeat expansions in genes linked to inherited neurological and genetic disorders. The test evaluates repeat expansions in ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, PPP2R2B, FXN, and FMR1, associated with Spinocerebellar Ataxia Types 1, 2, 3, 6, 7, and 12, Friedreich ataxia, and Fragile X–associated disorders, respectively.\u003c\/p\u003e\u003cp\u003eThis analysis supports the molecular diagnosis of selected repeat expansion disorders. Detection and interpretation are limited to the genes and repeat regions covered by the validated assay.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790439641374,"sku":"EGATXRE","price":3000.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egcansoesr1","title":"ESR1 Somatic Gene Analysis","description":"\u003cp\u003eThe Somatic Targeted Gene Analysis (ESR1) focuses on a critical gene, which is essential for cell signaling and growth regulation. Pathogenic variants in this gene can lead to tumor progression and significantly affect patient response to targeted therapies. This test provides vital information for healthcare providers to customize treatment plans, evaluate prognosis, and enhance therapeutic approaches for patients with cancers influenced by somatic mutations in this specific gene.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790440624414,"sku":"EGCANSOESR1","price":1700.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egcansom1","title":"Somatic Targeted Gene Analysis (One Gene)","description":"\u003cp\u003eThe Somatic Targeted Gene Analysis (Any One Gene) focuses on a critical gene, which is essential for cell signaling and growth regulation. Pathogenic variants in this gene can lead to tumor progression and significantly affect patient response to targeted therapies. This test provides vital information for healthcare providers to customize treatment plans, evaluate prognosis, and enhance therapeutic approaches for patients with cancers influenced by somatic mutations in this specific gene.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790440657182,"sku":"EGCANSOM1","price":1700.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egcansom2","title":"Somatic Targeted Gene Analysis (Two Genes)","description":"\u003cp\u003eThe Somatic Targeted Gene Analysis (Any Two Genes) includes key genes like BRCA1 and BRCA2, which play critical roles in DNA repair and tumor suppression. Pathogenic variants in these genes can drive cancer growth and influence patient response to targeted therapies, including PARP inhibitors. This test provides essential information for healthcare providers to tailor treatment options, assess prognosis, and optimize therapeutic strategies for patients with cancers driven by somatic mutations in these genes.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790440755486,"sku":"EGCANSOM2","price":2600.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egcansom3","title":"Somatic Targeted Gene Analysis (Three Genes)","description":"\u003cp\u003eThe Somatic Targeted Gene Analysis (Any Three Genes) includes critical genes, which are integral to DNA repair, cell cycle regulation, and tumor suppression. Pathogenic variants in these genes can significantly contribute to cancer progression and affect patient response to targeted therapies, including PARP inhibitors and other treatment modalities. This test offers vital information for healthcare providers to customize treatment plans, evaluate prognosis, and enhance therapeutic strategies for patients with cancers associated with somatic mutations in these genes.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790440788254,"sku":"EGCANSOM3","price":2650.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egchymic","title":"Y Chromosome Microdeletion","description":"\u003cp\u003eThe Y Chromosome Microdeletion Test identifies small deletions in the azoospermia factor (AZF) regions of the Y chromosome (AZFa, AZFb, AZFc), which play a crucial role in sperm production. These deletions are a common genetic cause of male infertility, accounting for 5-15% of cases of non-obstructive azoospermia and severe oligospermia.\u003c\/p\u003e\u003cp\u003eThe test is performed using PCR-based methods to detect specific deletions within the AZF regions. Results provide valuable information about the potential for natural conception, the suitability of assisted reproductive techniques (e.g., ICSI), and the genetic implications for offspring. Genetic counseling is recommended for patients with confirmed Y chromosome microdeletions.\u003c\/p\u003e\u003cp\u003eThis test is essential for men experiencing infertility or poor sperm quality and supports personalized treatment and family planning decisions.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790440952094,"sku":"EGCHYMIC","price":990.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-chromosome-v1.png?v=1793571480"},{"product_id":"eggenelrg","title":"Custom-Large Gene Panel","description":"\u003cp\u003eCustom gene panel is designed to perform sequencing and deletion\/duplication analysis for a selected group of Genes that can cause the disease. This test is ideal for cases where the phenotype is apparent, and there is only a few set of Genes (more than 500) that can cause the phenotype.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790442524958,"sku":"EGGENELRG","price":2000.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"eggenemed","title":"Custom-Medium Gene Panel","description":"\u003cp\u003eCustom gene panel is designed to perform sequencing and deletion\/duplication analysis for a selected group of Genes that can cause the disease. This test is ideal for cases where the phenotype is apparent, and there is only a few set of Genes (between 100-500 ) that can cause the phenotype.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790442557726,"sku":"EGGENEMED","price":2000.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"eggenesml","title":"Custom-Small Gene Panel","description":"\u003cp\u003eCustom gene panel is designed to perform sequencing and deletion\/duplication analysis for a selected group of Genes that can cause the disease. This test is ideal for cases where the phenotype is apparent, and there is only a few set of Genes (under 100) that can cause the phenotype.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790442590494,"sku":"EGGENESML","price":2000.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egkarscnv","title":"Karyosequencing + CNV Analysis","description":"\u003cp\u003eWhat This Test Detects\u003cbr\u003eWhole chromosome aneuploidies\u003c\/p\u003e\u003cp\u003eLarge chromosomal rearrangements and imbalances\u003c\/p\u003e\u003cp\u003eMicrodeletions and microduplications (CNVs)\u003c\/p\u003e\u003cp\u003eUnbalanced translocations\u003c\/p\u003e\u003cp\u003eMosaicism (above assay detection limits)\u003cbr\u003eClinical Indications\u003c\/p\u003e\u003cp\u003ePrenatal genetic evaluation (abnormal ultrasound findings)\u003c\/p\u003e\u003cp\u003eDevelopmental delay or intellectual disability\u003c\/p\u003e\u003cp\u003eCongenital anomalies\u003c\/p\u003e\u003cp\u003eRecurrent pregnancy loss\u003c\/p\u003e\u003cp\u003eInfertility investigations\u003cbr\u003eLimitations\u003c\/p\u003e\u003cp\u003eBalanced translocations and inversions may not be detected\u003c\/p\u003e\u003cp\u003eVery low-level mosaicism may not be identified\u003c\/p\u003e\u003cp\u003eVariants of uncertain significance (VUS) may be reported\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790444261662,"sku":"EGKARSCNV","price":1800.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egoncobcr","title":"BCR-ABL Fusion Analysis","description":"\u003cp\u003eA BCR-ABL1 genetic test uses a sample of blood or bone marrow to look for an abnormal gene called BCR-ABL1. This abnormal gene is involved in certain types of blood cancer. It's found in: Chronic myeloid leukemia (CML), which is also called chronic granulocytic leukemia or chronic myeloid leukemia Some people who have certain types of acute lymphoblastic leukemia (ALL) Some people with acute myeloid leukemia (AML)\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790444785950,"sku":"EGONCOBCR","price":1700.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egphgex","title":"ENIGMA MedMatch PGx","description":"\u003cp\u003eMedMatch PGx is a clinically advanced pharmacogenomics (PGx) test designed to guide personalised medication management. By analysing variants in key genes involved in drug metabolism, transport, and response—such as CYP2D6, CYP2C19, CYP3A4, VKORC1, SLCO1B1, and more—this test provides actionable insights into drug efficacy and risk of adverse effects.\u003cbr\u003eThis test empowers physicians and pharmacists to:\u003cbr\u003eAvoid trial-and-error prescribing\u003cbr\u003eReduce adverse drug reactions\u003cbr\u003eOptimize medication selection and dosing\u003cbr\u003eTailor treatments in psychiatry, cardiology, oncology, pain management, and more\u003cbr\u003eApplications:\u003cbr\u003ePatients with multiple medications (polypharmacy)\u003cbr\u003eHistory of poor drug response or side effects\u003cbr\u003eMental health, cardiovascular, and chronic condition management\u003cbr\u003eReport includes:\u003cbr\u003ePersonalized drug-gene interaction analysis\u003cbr\u003eEvidence-based clinical guidelines (e.g., CPIC, FDA, PharmGKB)\u003cbr\u003eSuggested alternatives where applicable\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790445113630,"sku":"EGPHGEX","price":1700.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egrnatseq","title":"Transcriptome RNA sequencing","description":"\u003cp\u003eTranscriptome RNA sequencing (RNA-seq) is an advanced next-generation sequencing (NGS) technique designed to comprehensively profile all RNA molecules (the transcriptome) present in a biological sample at a given time.\u003cbr\u003eUnlike DNA sequencing, which reveals genetic code, RNA-seq provides a snapshot of gene activity, enabling researchers to determine which genes are turned on or off, measure their expression levels, and detect variations such as alternative splicing events, gene fusions, or mutations in expressed regions.\u003cbr\u003eThe process typically involves:\u003cbr\u003eRNA extraction from the sample (tissue, blood, cells, etc.).\u003cbr\u003eConversion of RNA to complementary DNA (cDNA) using reverse transcription.\u003cbr\u003eApplications include disease research, cancer profiling, biomarker discovery, pharmacogenomics, developmental biology, and more. By revealing dynamic changes in gene expression, RNA-seq plays a crucial role in understanding molecular mechanisms and guiding precision medicine.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790445801758,"sku":"EGRNATSEQ","price":1600.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtarfive","title":"Five Targeted Variant Testing","description":"\u003cp\u003eTargeted genetic testing for known variants focuses specifically on identifying the presence Of a previously identified and well-characterized genetic variant in a patient's DNA. This Test is used when a specific genetic mutation is suspected to be responsible for a particular Medical condition. The test is designed to look for a specific genetic variation in a specific Gene or a set of Genes, and it is often used when the genetic cause of a disease has already Been identified in other family members or in previous research studies. This type of testing Can be faster and less expensive than full genome sequencing, and it can provide a more Focused and specific answer regarding the presence or absence of a particular genetic variant. Examples of conditions that can benefit from genetic testing. 1. Diagnosis of inherited genetic disorders: Targeted genetic analysis can help diagnose a Specific genetic disorder by testing for a known variant that is associated with the disease. 2. Carrier testing: Targeted genetic analysis can be used to determine if an individual is a Carrier of a genetic disorder, which can have implications for family planning. 3. Prenatal testing: Targeted genetic analysis can be used for prenatal testing to assess The risk of a specific genetic disorder in a developing fetus. 4. Cancer diagnosis: Targeted genetic analysis can be useful in the diagnosis of certain Types of cancer by testing for specific genetic mutations associated with the disease\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448259358,"sku":"EGTARFIVE","price":2000.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtarfour","title":"Four targeted variants Testing","description":"\u003cp\u003eTargeted genetic testing for known variants focuses specifically on identifying the presence Of a previously identified and well-characterized genetic variant in a patient's DNA. This Test is used when a specific genetic mutation is suspected to be responsible for a particular Medical condition. The test is designed to look for a specific genetic variation in a specific Gene or a set of Genes, and it is often used when the genetic cause of a disease has already Been identified in other family members or in previous research studies. This type of testing Can be faster and less expensive than full genome sequencing, and it can provide a more Focused and specific answer regarding the presence or absence of a particular genetic variant. Examples of conditions that can benefit from genetic testing. 1. Diagnosis of inherited genetic disorders: Targeted genetic analysis can help diagnose a Specific genetic disorder by testing for a known variant that is associated with the disease. 2. Carrier testing: Targeted genetic analysis can be used to determine if an individual is a Carrier of a genetic disorder, which can have implications for family planning. 3. Prenatal testing: Targeted genetic analysis can be used for prenatal testing to assess The risk of a specific genetic disorder in a developing fetus. 4. Cancer diagnosis: Targeted genetic analysis can be useful in the diagnosis of certain Types of cancer by testing for specific genetic mutations associated with the disease\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448292126,"sku":"EGTARFOUR","price":2000.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtargen2","title":"Two Gene Analysis","description":"\u003cp\u003eTargeted two gene analysis is designed to perform sequencing and deletion\/duplication analysis for a twogene. This test is ideal for cases where the phenotype is apparent and there is one gene that can cause the phenotype. Reflexing to testing more Genes is possible.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448324894,"sku":"EGTARGEN2","price":2500.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtargen2m","title":"Two Gene Analysis With MCC","description":"\u003cp\u003eTwo Gene Analysis With MCC\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448423198,"sku":"EGTARGEN2M","price":2050.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtargenm","title":"Single Gene Analysis With MCC","description":"\u003cp\u003eSingle Gene Analysis + Maternal Cell Contamination (MCC) is a specialized genetic test designed to examine an entire gene of interest for pathogenic variants, typically in cases where there is clinical suspicion or a family history of a specific inherited disorder.\u003c\/p\u003e\u003cp\u003eThis analysis is particularly useful when the condition under investigation is linked to mutations in a specific gene (e.g., CFTR for cystic fibrosis, HBB for beta-thalassemia). The test can identify a range of mutation types—including single nucleotide changes, small insertions\/deletions, and known pathogenic variants.\u003c\/p\u003e\u003cp\u003eIncluded in the package is Maternal Cell Contamination (MCC) analysis, which plays a crucial role in prenatal testing. MCC assesses whether maternal cells have contaminated the fetal DNA sample (from amniotic fluid or chorionic villi), helping ensure the validity and accuracy of results.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448455966,"sku":"EGTARGENM","price":2050.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtargens","title":"Single Gene analysis(Sequencing only)","description":"\u003cp\u003etest is designed to analyze the complete coding regions and intron–exon boundaries of a single gene using next-generation sequencing (NGS) or Sanger sequencing, depending on the gene and clinical indication. This test focuses exclusively on sequencing analysis and does not include deletion or duplication (copy number) analysis.\u003c\/p\u003e\u003cp\u003eThis test is particularly useful when the patient’s clinical presentation, family history, or biochemical findings strongly suggest the involvement of a specific gene known to be associated with the phenotype. By targeting a single, well-defined gene, this approach provides a cost-effective and precise method for identifying single nucleotide variants (SNVs), small insertions, or small deletions that may be pathogenic.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448488734,"sku":"EGTARGENS","price":1000.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtarjnt","title":"Joint Report for Premarital Genetic Screening (Targeted Panel)","description":"\u003cp\u003eJoint Report for Premarital Genetic Screening (Targeted Panel)\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448619806,"sku":"EGTARJNT","price":1000.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-couple-v1.png?v=1793571589"},{"product_id":"egtarjnts","title":"Joint Premarital Expanded Screening Report – Sehaty","description":"\u003cp\u003eJoint Report for Premarital Genetic Screening (Targeted Panel)Sehaty\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448652574,"sku":"EGTARJNTS","price":100.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-couple-v1.png?v=1793571589"},{"product_id":"egtaronem","title":"Targeted Variant Testing With MCC","description":"\u003cp\u003eOne Targeted Variant Testing + Maternal Cell Contamination (MCC) is a focused genetic testing package designed to detect the presence or absence of a single, well-characterized genetic variant in fetal DNA. This test is especially valuable when a known pathogenic variant has already been identified in one or both parents, a previous child, or within the extended family.\u003cbr\u003eTargeted genetic testing is used when there is prior knowledge of a specific genetic mutation associated with a condition. By concentrating on one specific variant, this test provides a rapid and cost-effective alternative to broader sequencing methods like whole exome or genome sequencing—while still delivering clinically meaningful results.\u003cbr\u003eThis package also includes Maternal Cell Contamination (MCC) analysis, a critical quality control step in prenatal genetic testing. MCC analysis evaluates whether maternal cells have contaminated the fetal sample (e.g., from amniotic fluid or chorionic villus sampling), which can compromise the accuracy of results. 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The test is designed to look for a specific genetic variation in a specific \u003cbr\u003egene or a set of Genes, and it is often used when the genetic cause of a disease has already \u003cbr\u003ebeen identified in other family members or in previous research studies. This type of testing \u003cbr\u003ecan be faster and less expensive than full genome sequencing, and it can provide a more \u003cbr\u003efocused and specific answer regarding the presence or absence of a particular genetic variant.\u003cbr\u003eExamples of conditions that can benefit from genetic testing.\u003cbr\u003e1. Diagnosis of inherited genetic disorders: Targeted genetic analysis can help diagnose a \u003cbr\u003especific genetic disorder by testing for a known variant that is associated with the disease.\u003cbr\u003e2. Carrier testing: Targeted genetic analysis can be used to determine if an individual is a \u003cbr\u003ecarrier of a genetic disorder, which can have implications for family planning.\u003cbr\u003e3. Prenatal testing: Targeted genetic analysis can be used for prenatal testing to assess \u003cbr\u003ethe risk of a specific genetic disorder in a developing fetus.\u003cbr\u003e4. Cancer diagnosis: Targeted genetic analysis can be useful in the diagnosis of certain \u003cbr\u003etypes of cancer by testing for specific genetic mutations associated with the disease\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448718110,"sku":"EGTARONESNG","price":950.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtarrex","title":"IGHV Gene Mutation Ananlysis","description":"\u003cp\u003eIGHV Gene Mutation Analysis determines the somatic hypermutation status of the immunoglobulin heavy chain variable (IGHV) gene in patients with chronic lymphocytic leukemia (CLL). 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This test supports diagnosis, prognostic assessment, risk stratification, therapeutic decision-making, and long-term disease management in accordance with current international clinical guidelines.\u003c\/p\u003e\u003cp\u003eMethodology: Sanger Sequencing or Next-Generation Sequencing (NGS), depending on laboratory workflow.\u003c\/p\u003e\u003cp\u003eSample Type: Peripheral whole blood (EDTA) or bone marrow aspirate.\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448750878,"sku":"EGTARREX","price":1700.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtarthr","title":"Three Targeted Variant Testing","description":"\u003cp\u003eTargeted genetic testing for known variants focuses specifically on identifying the presence Of a previously identified and well-characterized genetic variant in a patient's DNA. This Test is used when a specific genetic mutation is suspected to be responsible for a particular Medical condition. The test is designed to look for a specific genetic variation in a specific Gene or a set of Genes, and it is often used when the genetic cause of a disease has already Been identified in other family members or in previous research studies. This type of testing Can be faster and less expensive than full genome sequencing, and it can provide a more Focused and specific answer regarding the presence or absence of a particular genetic variant. Examples of conditions that can benefit from genetic testing. 1. Diagnosis of inherited genetic disorders: Targeted genetic analysis can help diagnose a Specific genetic disorder by testing for a known variant that is associated with the disease. 2. Carrier testing: Targeted genetic analysis can be used to determine if an individual is a Carrier of a genetic disorder, which can have implications for family planning. 3. Prenatal testing: Targeted genetic analysis can be used for prenatal testing to assess The risk of a specific genetic disorder in a developing fetus. 4. Cancer diagnosis: Targeted genetic analysis can be useful in the diagnosis of certain Types of cancer by testing for specific genetic mutations associated with the disease\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448783646,"sku":"EGTARTHR","price":1900.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtarthrp","title":"Three Targeted Variant Testing with MCC","description":"\u003cp\u003eThree Targeted Variant Testing with MCC\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448816414,"sku":"EGTARTHRP","price":1900.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtartwo","title":"Two Targeted Variant Testing","description":"\u003cp\u003eTargeted genetic testing for known variants focuses specifically on identifying the presence Of a previously identified and well-characterized genetic variant in a patient's DNA. This Test is used when a specific genetic mutation is suspected to be responsible for a particular Medical condition. The test is designed to look for a specific genetic variation in a specific Gene or a set of Genes, and it is often used when the genetic cause of a disease has already Been identified in other family members or in previous research studies. This type of testing Can be faster and less expensive than full genome sequencing, and it can provide a more Focused and specific answer regarding the presence or absence of a particular genetic variant. Examples of conditions that can benefit from genetic testing. 1. Diagnosis of inherited genetic disorders: Targeted genetic analysis can help diagnose a Specific genetic disorder by testing for a known variant that is associated with the disease. 2. Carrier testing: Targeted genetic analysis can be used to determine if an individual is a Carrier of a genetic disorder, which can have implications for family planning. 3. Prenatal testing: Targeted genetic analysis can be used for prenatal testing to assess The risk of a specific genetic disorder in a developing fetus. 4. Cancer diagnosis: Targeted genetic analysis can be useful in the diagnosis of certain Types of cancer by testing for specific genetic mutations associated with the disease\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790448849182,"sku":"EGTARTWO","price":1700.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-targeted-target-v1.png?v=1793571419"},{"product_id":"egtartwom","title":"Two Targeted Variant Testing with MCC","description":"\u003cp\u003eTwo Targeted Variant Testing + Maternal Cell Contamination (MCC) is a specialized genetic testing package designed to detect the presence or absence of two specific, well-characterized genetic variants in fetal DNA. 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