F508 - Study guides, Revision notes & Summaries

what is GINA? Correct Answer-Genetic non-discrimination act what are the 4 different types of molecular classifications of genetic disease? which one presents the greatest challenge for genetic testing? which ones would MD, CF , Sickle cell and diabetes fall under? Correct Answer-1. mutation and gene known: sickle cell 2. gene known, mutation unknwon: MD, CF 3. gene unknown, mutation unkown : 4. polygenic disorders: diabetes, CV disease; polygenic disorders most challenging, cuz mul...

RB is a 20 year old female recently approved for CF treatment with Trikafta® (elexacaftor/tezacaftor/ivacaftor). She is homozygous for the F508 del mutation in the CFTR gene and meets criteria for treatment with this medication. Her current medications include inhaled albuterol, normal saline, tobramycin, Advair® and Pulmozyme®. She is also taking buspirone, cetirizine, vitamin D3, insulin (regular and long acting), montelukast, omeprazole, and Creon®. What is an important counseling point t...

CSP NASP QUESTION BANK + CSP HANDBOOK QUESTIONS AND ANSWERS, 100% ACCURATE. RB is a 20 year old female recently approved for CF treatment with Trikafta® (elexacaftor/tezacaftor/ivacaftor). She is homozygous for the F508 del mutation in the CFTR gene and meets criteria for treatment with this medication. Her current medications include inhaled albuterol, normal saline, tobramycin, Advair® and Pulmozyme®. She is also taking buspirone, cetirizine, vitamin D3, insulin (regular and long...

ASCP MB Exam Questions and Answers 100% Pass Acute Promylocity Leukemia (APL) - Answer ️️ -t(15:17) PML / RARa genes Chronic Myelogenous Leukemia (CML) - Answer ️️ -t(9:22) a.k.a. Philadelphia chromosome ABL1 / BCR genes Burkitt's non-Hodkin's Lymphoma - Answer ️️ -t(8:14) dysregulation of c-myc gene breakpoints on ch.8 spread over 190kbp region 5' to 3' Follicular non-Hodkin's Lymphoma - Answer ️️ -t(14:18) IgH / BCL2 genes Mantle Cell Lymphoma (MCL) - Answer ️...

ASCP MB Exam Questions and Answers 100% Pass Acute Promylocity Leukemia (APL) - Answer ️️ -t(15:17) PML / RARa genes Chronic Myelogenous Leukemia (CML) - Answer ️️ -t(9:22) a.k.a. Philadelphia chromosome ABL1 / BCR genes Burkitt's non-Hodkin's Lymphoma - Answer ️️ -t(8:14) dysregulation of c-myc gene breakpoints on ch.8 spread over 190kbp region 5' to 3' Follicular non-Hodkin's Lymphoma - Answer ️️ -t(14:18) IgH / BCL2 genes Mantle Cell Lymphoma (MCL) - Answer ️...

ASCP MB Exam Questions and Answers 100% Pass Acute Promylocity Leukemia (APL) - Answer ️️ -t(15:17) PML / RARa genes Chronic Myelogenous Leukemia (CML) - Answer ️️ -t(9:22) a.k.a. Philadelphia chromosome ABL1 / BCR genes Burkitt's non-Hodkin's Lymphoma - Answer ️️ -t(8:14) dysregulation of c-myc gene breakpoints on ch.8 spread over 190kbp region 5' to 3' Follicular non-Hodkin's Lymphoma - Answer ️️ -t(14:18) IgH / BCL2 genes Mantle Cell Lymphoma (MCL) - Answer ️...

RB is a 20 year old female recently approved for CF treatment with Trikafta® (elexacaftor/tezacaftor/ivacaftor). She is homozygous for the F508 del mutation in the CFTR gene and meets criteria for treatment with this medication. Her current medications include inhaled albuterol, normal saline, tobramycin, Advair® and Pulmozyme®. She is also taking buspirone, cetirizine, vitamin D3, insulin (regular and long acting), montelukast, omeprazole, and Creon®. What is an important counseling point t...

What is the most common pulmonary pathologic finding at autopsy in large general hospitals? correct answer: Pulmonary embolism At a genetic level, what is the cause of cystic fibrosis? correct answer: Mutations of a single gene in the long arm of chromosome 7 (mutation of F508 results in the deletion of phenylalanine at position 508 of the protein named cystic fibrosis transmembrane conductance regulator (CFTR). This mutation is responsible for about 70% of CF cases) What is Eisenmenger ...

ASCP MB Exam Questions and Answers 100% Pass Acute Promylocity Leukemia (APL) - Answer ️️ -t(15:17) PML / RARa genes Chronic Myelogenous Leukemia (CML) - Answer ️️ -t(9:22) a.k.a. Philadelphia chromosome ABL1 / BCR genes Burkitt's non-Hodkin's Lymphoma - Answer ️️ -t(8:14) dysregulation of c-myc gene breakpoints on ch.8 spread over 190kbp region 5' to 3' Follicular non-Hodkin's Lymphoma - Answer ️️ -t(14:18) IgH / BCL2 genes Mantle Cell Lymphoma (MCL) - Answer ️...

Acute Promylocity Leukemia (APL) t(15:17) PML / RARa genes Chronic Myelogenous Leukemia (CML) t(9:22) a.k.a. Philadelphia chromosome ABL1 / BCR genes Burkitt's non-Hodkin's Lymphoma t(8:14) dysregulation of c-myc gene breakpoints on ch.8 spread over 190kbp region 5' to 3' Follicular non-Hodkin's Lymphoma t(14:18) IgH / BCL2 genes Mantle Cell Lymphoma (MCL) t(11:14) CCND1 / IgH genes overexpression of cyclin D1 (cell cycle gene) MALT Lymphoma (a.k.a. Marginal Zone) t(11:18) AP...