בדיקת אקסום

דף הבית / טיפולים / בדיקת אקסום

בדיקת ריצוף NGS (פאנל גנים ב-NGS או WES = Whole exom seguencing או אקסום) הינה בדיקה חדשה שמטרתה לזהות את הגורם הגנטי למצב לא תקין בעובר, כך שניתן לגלות שינויים לא תקינים ברצף, בהשוואה לעובר התקין.

באמצעות טכנולוגיה ניתן להגדיל את איתור המחלות הגנטיות בדגימת מי שפיר\סיסי שליה.

כיום, כאשר מבוצעת בדיקת מי שפיר\סיסי שליה, מקובל לבצע על הדגימה שנלקחת את בדיקת הצ'יפ הגנטי.

בדיקה זו מזהה מספר רב של תסמונות גנטיות כגון: תסמונת דאון. אולם, ישנן תסמונות גנטיות שבדיקה זו לא מסוגלת לגלות(בגלל שהשינויים ברצף הגנטי קטנים מידי, כך שהבדיקה לא מסוגלת לזהות אותם. הריצוף הגנטי יכול לזהות חלק מאותם השינויים, אותם הצ'יפ לא מזהה).

למי מומלצת הבדיקה:

לבדיקה זו ישנה חשיבות במיוחד במקרים בהם מתגלים המומים או קיים חשש לתסמונות גנטיות.

ניתן לבצע את הבדיקה מיד לאחר דיקור מי שפיר\בדיקת סיסי שליה יחד עם בדיקת הצ'יפ הגנטי או להמתין לתוצאות הבדיקה של הצ'יפ הגנטי ולאחר מכן לבצע את בדיקת האקסום. ניתן להתייעץ עם רופא מדקר\יועצת גנטית בנוגע לביצוע בדיקה זו.

אנו נוהגים לבצע בדיקה שנקראת אקסום טריו בה נבדק הרצף הגנטי של העובר ושל שני ההורים וזאת על מנת להגיע לתוצאות מדויקות יותר.

חשוב לציין כי בדיקה זו לא שוללת את כלל הבעיות הגנטיות העשויות להיות בעובר.

מומחים בתחום

ד“ר ישראל הנדלר

רופא בכיר בחדר לידה בשיבא ובבי“ח האנגלי בנצרת

לפרטים נוספים

ד"ר גיאלצ׳ינסקי יובל

רופא בכיר בתחום הגינקולוגיה, בילינסון

לפרטים נוספים

ד"ר דנון דוד

מומחה באולטרסאונד, רפואת העובר ופעולות פולשניות

לפרטים נוספים

ד"ר אורנה לוינסון-תבור

מומחית למיילדות, גינקולוגיה ואולטרסאונד

לפרטים נוספים

ד"ר פיינשטיין יצחק

רופא בכיר בתחום הגניקולוגיה

לפרטים נוספים

ד"ר ישעיה אריה

רופא בכיר בתחום הגניקולוגיה, ביה"ח בלינסון

לפרטים נוספים

רוצה עוד פרטים?

השאירו שם ומספר טלפון ונחזור בהקדם.

הגעה וחניה

טפסי הסכמה

הגשת תביעה

רופאים שאיתנו

למי מומלצת הבדיקה:
מומחים בתחום

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