PCR can test for what diseases?
Hep - B
Herpes simplex 1
Herpes simplex 2
HIV
HPV
Epstein-barr
Cytomegalovirus
Cystic fibrosis
Huntingtons
Bk
... [Show More] virus
Fragile X
Parovirus
qPCR can test for what diseases?
Herpes simplex 1
Herpes simplex 2
Epstein-barr
HPV
HIV
Cytomegalovirus
Bk virus
VZV
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RT PCR can test for what diseases?
HIV
Influenza
Coronavirus
Ewing sarcoma
Synovial sarcoma
Hep - C
Multiplex PCR can test for what diseases?
B. pertussis
M. pneumoniae
C. pneumoniae
L. pneumonphila
NASBA can test for what diseases?
HIV
Cytomegalovirus
West Nile
RSV
FISH can test for what diseases?
Cytomegalovirus
Synovial sarcoma
Pradder Will syndrome
Angelman syndrome
Burkitt lymphoma
What is the major cause of Prader Willi syndrome?
epigenetics; genomic imprinting
bDNA can test for what diseases?
HIV
Hep - B
Hep - C
Hybrid capture can test for what diseases?
Cytomegalovirus
HPV
Hep - B
Epstein-barr
Probe amplification sequencing can test for what diseases?
familial hypercholesterolemia
Nested PCR can test for what diseases?
Synovial carcoma
What is the detection method for HIV resistance testing?
sequencing
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PCR RFLP can test for what diseases?
sickle cell anemia
cystic fibrosis
Leiden mutation
What is the processing order for HIV?
plasma separation
extraction
RNA modification
amplification
What are the Herpes viruses?
HPV (human papilloma virus)
HSV (herpes simplex virus)
EMV (epstein-barr virus)
CMV (cytomegalovirus)
How do you read this gene location?
2q31:1
region 3, band 1, sub-band 1, of the long arm of chromosome 2
What is the genetic abnormality of:46,XY,del(16p14)
Deletion in region 1, band 4 of the short arm of chr 16
What is the genetic abnormality of:
iso(X)(q10)
Isochormosome comprised of the long arms of the X chr
What is the genetic abnormality of:
46, XX, del(22q11.2)
Deletion in region 1, band 1, sub-band 2 of the long arm of chr 22
Acute lymphocytic leukemia
t (9,12) t (9,22)
BCR/Abl1
Acute Lymphoblastic Leukemia
t (17, 19)
Acute myeloblastic leukemia
t (8,21)
Acute myelogenous leukemia
t (1, 12) or t (12,15)
Acute myeloid leukemia
t (12, 15)
PML/RARA fusion protein
FLT3?
Acute promyelocytic leukemia
t (15, 17)
RARa gene and PML
treat with transretinoic acid therapy
Alkaptonuria
homogentisic acid oxidase
2q21 - 23 missense and frameshift
Anaplastic large cell lymphoma
t (2, 5)
Nucleophosmin gene
Angelman
UBE31 del on chromosome 15 from mother
BRCA 1 mutations are at a high risk of developing what type of cancer?
Ovarian cancer
Breast cancer
BRCA 1/2, HER2, ERBB2
17q21.1
13q12
sensitive to herceptin monclonal antibody therapy.
Burkitt's lymphoma
t (8, 14)
cMYC gene, chromosome 8 / IgH
Chri du Chat Syndrome
Deletion 5p
Chronic myelogenous leukemia
t (9, 22) or t (9,12)
BCR-ABL1 gene
Philadelphia chromosome
treat with imatinib (aka Gleevec) and Tyrosin Kinase inhibitors (cml)
Colon cancer
KRAS, BRAF, PIK3CA
What genes would be screened in a colorectal panel?
MSH2 and MLH1
Cystic fibrosis
CFTR gene on chromosome 7
F508del 3bp deletion
Causes severe lung damage - thick/sticky secretion of mucus, sweat, saliva, & digestive juices. Results in respiratory failure. No treatment available. Loss of function of CFTR.
Duchenne muscular dystrophy
Dystrophin gene (Xp21)
Digeorge
46XX(del)22q
Dermatofibrosarcoma protuberans
t (17, 22)
COL1A1-FDGF genes
treat with surgery and Imatnib
Down syndrome
t (14, 21) trisomy 21 [Show Less]