Athena Diagnostics Improves Ataxia Movement Disorder Testing with Novel Long-Read Gene Sequencing
Quest Diagnostics (NYSE: DGX) subsidiary Athena Diagnostics has launched a new laboratory test service for improved genetic testing of ataxia, a group of degenerative neurological disorders affecting movement and coordination. The test, developed in collaboration with PacBio (NASDAQ: PACB), utilizes PacBio's PureTarget sequencing method to identify long DNA repeat sequences that conventional testing might miss.
The new test will serve as a confirmatory tool following initial PCR screening, with testing conducted at Athena's Marlborough laboratory. A preprint study demonstrated the test's ability to identify specific gene patterns in Spinocerebellar ataxia type 10, potentially helping predict disease onset. Recent studies indicate ataxia affects 26 per 100,000 children, with genetic causes accounting for 10 per 100,000 cases.
Quest Diagnostics (NYSE: DGX), tramite la sua controllata Athena Diagnostics, ha lanciato un nuovo servizio di test di laboratorio per migliorare l'analisi genetica dell'atassia, un gruppo di disturbi neurologici degenerativi che influenzano il movimento e la coordinazione. Il test, sviluppato in collaborazione con PacBio (NASDAQ: PACB), utilizza il metodo di sequenziamento PureTarget di PacBio per identificare sequenze di ripetizioni di DNA lunghe che i test convenzionali potrebbero non rilevare.
Questo nuovo test sarà utilizzato come strumento confermativo dopo uno screening iniziale con PCR, con le analisi effettuate presso il laboratorio di Athena a Marlborough. Uno studio preprint ha dimostrato la capacità del test di identificare specifici modelli genetici nell'atassia spinocerebellare di tipo 10, potenzialmente utile per prevedere l'insorgenza della malattia. Studi recenti indicano che l'atassia colpisce 26 bambini ogni 100.000, con cause genetiche responsabili di 10 casi ogni 100.000.
Quest Diagnostics (NYSE: DGX), a través de su filial Athena Diagnostics, ha lanzado un nuevo servicio de pruebas de laboratorio para mejorar la detección genética de la ataxia, un grupo de trastornos neurológicos degenerativos que afectan el movimiento y la coordinación. La prueba, desarrollada en colaboración con PacBio (NASDAQ: PACB), utiliza el método de secuenciación PureTarget de PacBio para identificar secuencias largas de repeticiones de ADN que los métodos convencionales podrían pasar por alto.
Esta nueva prueba servirá como herramienta confirmatoria tras una detección inicial por PCR, realizándose los análisis en el laboratorio de Athena en Marlborough. Un estudio preliminar demostró la capacidad de la prueba para identificar patrones genéticos específicos en la ataxia espinocerebelosa tipo 10, lo que podría ayudar a predecir la aparición de la enfermedad. Estudios recientes indican que la ataxia afecta a 26 niños por cada 100,000, con causas genéticas responsables de 10 casos por cada 100,000.
Quest Diagnostics (NYSE: DGX)의 자회사 Athena Diagnostics가 운동 및 조정을 저해하는 퇴행성 신경질환인 운동실조증의 유전자 검사를 개선하기 위한 새로운 실험실 검사 서비스를 출시했습니다. 이 검사는 PacBio (NASDAQ: PACB)와 협력하여 개발되었으며, PacBio의 PureTarget 시퀀싱 방법을 사용해 기존 검사에서 놓칠 수 있는 긴 DNA 반복 서열을 식별합니다.
이 새로운 검사는 초기 PCR 선별 검사 후 확인 도구로 사용되며, Athena의 Marlborough 실험실에서 검사가 진행됩니다. 사전 인쇄(preprint) 연구에서는 이 검사가 척수소뇌 운동실조증 10형에서 특정 유전자 패턴을 식별할 수 있음을 보여주어 질병 발병 예측에 도움을 줄 수 있습니다. 최근 연구에 따르면 운동실조증은 어린이 10만 명당 26명에게 영향을 미치며, 유전적 원인은 10만 명당 10건을 차지합니다.
Quest Diagnostics (NYSE : DGX), par le biais de sa filiale Athena Diagnostics, a lancé un nouveau service de test en laboratoire pour améliorer le dépistage génétique de l'ataxie, un groupe de troubles neurologiques dégénératifs affectant le mouvement et la coordination. Ce test, développé en collaboration avec PacBio (NASDAQ : PACB), utilise la méthode de séquençage PureTarget de PacBio pour identifier de longues séquences répétées d'ADN que les tests conventionnels pourraient manquer.
Ce nouveau test servira d'outil de confirmation après un dépistage initial par PCR, les analyses étant réalisées dans le laboratoire d'Athena à Marlborough. Une étude préliminaire a démontré la capacité du test à identifier des motifs génétiques spécifiques dans l'ataxie spinocérébelleuse de type 10, ce qui pourrait aider à prédire l'apparition de la maladie. Des études récentes indiquent que l'ataxie touche 26 enfants pour 100 000, avec des causes génétiques responsables de 10 cas pour 100 000.
Quest Diagnostics (NYSE: DGX) Tochtergesellschaft Athena Diagnostics hat einen neuen Labortest-Service zur verbesserten genetischen Untersuchung von Ataxie eingeführt, einer Gruppe degenerativer neurologischer Erkrankungen, die Bewegung und Koordination beeinträchtigen. Der Test wurde in Zusammenarbeit mit PacBio (NASDAQ: PACB) entwickelt und nutzt die PureTarget-Sequenzierungsmethode von PacBio, um lange DNA-Wiederholungssequenzen zu identifizieren, die bei herkömmlichen Tests möglicherweise übersehen werden.
Der neue Test dient als Bestätigungstool nach einem initialen PCR-Screening und wird im Marlborough-Labor von Athena durchgeführt. Eine Preprint-Studie zeigte die Fähigkeit des Tests, spezifische Genmuster bei der spinocerebellären Ataxie Typ 10 zu erkennen, was möglicherweise zur Vorhersage des Krankheitsbeginns beiträgt. Aktuelle Studien zeigen, dass Ataxie 26 von 100.000 Kindern betrifft, wobei genetische Ursachen 10 von 100.000 Fällen ausmachen.
- Development of advanced genetic testing capability for better diagnosis of ataxia
- Strategic collaboration with PacBio enhancing diagnostic capabilities
- Potential expansion into carrier screening applications
- Improved ability to identify complex genetic patterns missed by conventional testing
- None.
Insights
Quest's new long-read sequencing test for ataxia improves diagnosis of complex genetic variants previously missed by conventional methods.
Quest Diagnostics' subsidiary Athena Diagnostics has introduced a significant advancement in genetic testing for ataxia disorders through their collaboration with PacBio. The new laboratory developed test (LDT) leverages PacBio's PureTarget long-read sequencing technology to detect expanded DNA repeat sequences that conventional sequencing methods frequently miss.
This technological advancement addresses a critical gap in ataxia diagnostics. The condition, affecting approximately 26 per 100,000 children with 10 per 100,000 having genetic causes, has been challenging to diagnose definitively due to limitations in detecting certain genetic variants. Conventional sequencing excels at identifying short DNA sequences but struggles with large, repetitive sequences that are often implicated in ataxia.
The clinical utility of this test is particularly promising. According to a referenced preprint study, the PureTarget panel can identify specific repeating gene patterns in Spinocerebellar ataxia type 10 that may correlate with age of disease onset. This information could significantly impact clinical decision-making and patient management strategies.
From a diagnostic workflow perspective, this test appears to be positioned as a confirmatory method following initial PCR screening, enhancing diagnostic accuracy. The partnership with PacBio demonstrates Quest's strategic investment in advanced genomic technologies, with potential expansion into carrier screening applications mentioned as a future direction.
For patients and clinicians dealing with ataxia's complex presentation, this test may reduce the "diagnostic odyssey" often experienced with neurological disorders, where multiple iterative tests are typically required before reaching a definitive diagnosis. By improving the ability to detect underlying genetic causes, this advancement could lead to more targeted clinical management and better informed genetic counseling for affected families.
New test utilizes technology based on PacBio's PureTarget sequencing method to uncover genetic causes of disease
The new service is a laboratory developed test that identifies sequences of DNA that repeat many times across a long stretch of the genome. Conventional sequencing technologies are adept at elucidating short DNA sequences but may fail to discern complex or large repeating sequences. Genetic causes of ataxia include expansions of repeating sequences in various genes, which go undetected in many conventional genetic sequencing panels. The new service will be used to confirm initial screening results delivered using polymerase chain reaction (PCR) testing. Healthcare providers may now order the test from Athena Diagnostics.
Under a collaboration agreement with PacBio (NASDAQ: PACB), Quest developed and validated the new lab developed test using specialized technology based on PacBio's PureTarget method. Athena used the technology to develop and validate its ataxia test in Athena's advanced laboratory in
In a study available as a preprint, a PureTarget gene panel was found to identify a specific repeating gene pattern associated with Spinocerebellar ataxia type 10 that may be associated with age of disease onset, information that may help guide care decisions.
"Extensive iterative testing is sometimes needed to identify the genes implicated in neurological disease like ataxia," said Mark Gardner, Senior Vice President of Oncology, Genomics and R&D at Quest Diagnostics. "Interrogating long DNA strands may identify patterns that other methods may miss, improving confirmatory testing quality."
"Athena Diagnostics is a well-regarded leader in neurological and rare disease testing, and we are excited about the potential of this new Athena Diagnostics test, empowered with our expertise in long-read sequencing, so more families get the answers they need," said Christian Henry, President and Chief Executive Officer of PacBio.
Ataxia is a degenerative disease of the nervous system, wherein affected individuals may experience lack of coordination using muscles in their fingers and hands, arms, legs, walking, speaking or moving their eyes, resulting from dysfunction of brain areas. Recent studies have found the prevalence of ataxia in children to be 26 per 100,000, with 10 per 100,000 being caused by genetics.
About Athena Diagnostics
Athena Diagnostics, a business of Quest Diagnostics, is a leader in diagnostic testing for neurological diseases and offers innovative tests for Alzheimer's disease, muscular dystrophy and other neuromuscular and developmental disorders. Athena is dedicated to providing neurologists and other physicians and specialists with insights that can improve patient health. For more information, visit AthenaDiagnostics.com.
About PacBio
PacBio (NASDAQ: PACB) is a premier life science technology company that is designing, developing and manufacturing advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technologies stem from two highly differentiated core technologies focused on accuracy, quality and completeness which include our HiFi long-read sequencing and our SBB® short-read sequencing technologies. Our products address solutions across a broad set of research applications including human germline sequencing, plant and animal sciences, infectious disease and microbiology, and oncology. For more information, please visit www.pacb.com and follow @PacBio.
PacBio products are provided for Research Use Only. Not for use in diagnostic procedures.
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SOURCE Quest Diagnostics
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