S/HE GOT IT FROM HER/HIS MOMMA
WHAT IS HEMOPHILIA A?
AJ HBOC
RECOMMENDED HEXA ENZYME TESTING SAMPLE TYPE FOR PREGNANT WOMEN OR THOSE ON ORAL CONTRACEPTIVES
WHAT IS LEUKOCYTES?
THIS TERM REFERS TO THE PROPORTION OF NEGATIVE RESULTS THAT ARE TRUE NEGATIVES
WHAT IS NEGATIVE PREDICTIVE VALUE?
WHAT IS APC?
LETHARGY, VOMITING, SEIZURE, HYPERAMMONEMIA, HIGH OROTIC ACID
WHAT IS OTC DEFICIENCY?
CAUCASIAN CYSTIC FIBROSIS
WHAT IS 1 IN 25?
WHAT IS AN IMPRINTING CENTER DEFECT?
THE CHANCE A WOMAN WITH A SON AFFECTED BY DMD IS A CARRIER
WHAT IS 2/3?
GENE THAT CAUSES A HISTOLOGICALLY SPECIFIC TYPE OF POLYP (JUVENILE POLYPS) AND CAN ALSO CAUSE HEREDITARY HEMORRHAGIC TELANGIECTASIA?
AR GENE, FEMINIZATION OF EXTERNAL GENITALIA AT BIRTH, ABNORMAL PUBERTY, INFERTILITY, LOW BONE MINERAL DENSITY
WHAT IS ANDROGEN INSENSITIVITY SYNDROME?
WHAT IS 1 IN 10?
MOST COMMON GENETIC CAUSE OF DISEASE IN A CHILD THAT HAS HYPOTONIA IN INFANCY, FOLLOWED BY EXCESSIVE EATING AND CENTRAL OBESITY IN CHILDHOOD, COGNITIVE IMPAIRMENT AND BEHAVIORAL ISSUES
WHAT IS A DELETION?
THE CARRIER FREQUENCY OF A CERTAIN CONDITION IF THE INCIDENCE IS 1 IN 2,500
WHAT IS 1 IN 25?
MOST COMMON GENE THAT CAUSES MARFANOID HABITUS, AORTIC DILATION/RUPTURE, MYOPIA AND ECTOPIA LENTIS, BIFID UVULA
BLISTERING RASH AT BIRTH, WART-LIKE LESIONS, HYPERPIGMENTATION, STROKE, VISION LOSS
WHAT IS INCONTINENTIA PIGMENTI?
FRENCH CANADIAN/CAJUN CYSTIC FIBROSIS
WHAT IS 1 IN 16?
FIRST LINE TEST FOR SEVERE HEMOPHILIA A
WHAT IS INTRON 22 INVERSION?
THE RISK OF HAVING AN AFFECTED CHILD IF AN UNAFFECTED WOMAN HAS A BROTHER WITH AN AR DISORDER. HER HUSBAND HAS NO HISTORY OF THE DISORDER AND THE POPULATION FREQUENCY OF THE DISORDER IS 1 IN 40,000.
WHAT IS 1 IN 600?
GENE ASSOCIATED WITH THE DEVELOPMENT OF WILMS TUMOR (OBSERVED IN WAGR, DENYS-DRASH, FRASIER SYNDROMES)
WHAT IS WT1?
ORANGE SAND-LIKE DEPOSITS IN DIAPER, SELF-INJURY, DYSTONIA, HPRT1 GENE,
WAHT IS LESCH-NYHAN SYNDROME?
AJ DYSAUTONOMIA
WHAT IS 1 IN 31?
NEXT STEPS FOLLOWING SOMATIC TUMOR TESTING INDICATING HIGH MSI INSTABILITY AND ABSENT MLH1-PMS2 EXPRESSION
WHAT IS TEST FOR BRAF V600E AND MLH1 HYPERMETHYLATION?
THE RISK OF A 30 YEAR OLD ASYMPTOMATIC WOMAN HAVING INHERITED NF1 FROM HER MOTHER IF 80% OF PEOPLE HAVE SYMPTOMS BY AGE 30.
WHAT IS 1 IN 6?
GENE ASSOCIATED WITH VASCULAR EDS
WHAT IS COL3A1?