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Mayo #88911 ARPKD
Message"Forms:
1. Molecular Genetics-Congenital Inherited Diseases Patient Information Sheet
Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing. Prenatal specimens can be sent Monday through Thursday and must be received by 5 pm CST on Friday in order to be processed appropriately. All prenatal specimens must be accompanied by a maternal blood specimen. Order MCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen"
1. Molecular Genetics-Congenital Inherited Diseases Patient Information Sheet
Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing. Prenatal specimens can be sent Monday through Thursday and must be received by 5 pm CST on Friday in order to be processed appropriately. All prenatal specimens must be accompanied by a maternal blood specimen. Order MCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen"
Test Code
88911
Alias/See Also
"PKHD1
Polycystic Kidney Disease (PKD)
"
Polycystic Kidney Disease (PKD)
"
CPT Codes
81408-PKHD1
Preferred Specimen
Lavender top (EDTA) or yellow top (ACD) Whole Blood 3 mL
Other Acceptable Specimens
Any anticoagulant
Instructions
"1. Invert several times to mix blood.
2. Send specimen in original tube
Specimen must arrive within 96 hours of collection"
2. Send specimen in original tube
Specimen must arrive within 96 hours of collection"
Specimen Stability
Ambient (preferred)/Refrigerated
Methodology
"Polymerase Chain Reaction (PCR) Followed by DNA Sequencing Analysis (PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.) "
Setup Schedule
Wednesday; 10 a.m
Report Available
"14-20 days Specimen Retention Time:
Whole Blood: 2 weeks (if available) Extracted DNA: 3 months
"
Whole Blood: 2 weeks (if available) Extracted DNA: 3 months
"
Reference Range
An interpretive report will be provided
Clinical Significance
"Useful For:
Diagnosis of individuals suspected of having autosomal recessive polycystic kidney disease
Prenatal diagnosis if there is a high suspicion of ARPKD based on ultrasound findings
Carrier testing of individuals with a family history of ARPKD but an affected individual is not available for testing or disease-causing mutations have not been identified
Autosomal recessive polycystic kidney disease (ARPKD) is a disorder caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. The incidence of ARPKD is approximately 1:20,000 and the estimated carrier frequency in the general population is 1:70. ARPKD is characterized by enlarged echogenic kidneys, congenital hepatic fibrosis, and pulmonary hypoplasia (secondary to oligohydramnios [insufficient volume of amniotic fluid] in utero). Most individuals with ARPKD present during the neonatal period, and of those, nearly one third die of respiratory insufficiency. Early diagnosis, in addition to initiation of renal replacement therapy (dialysis or transplantation) and respiratory support, increases the 10-year survival rate significantly. Presenting symptoms include bilateral palpable flank masses in infants and subsequent observation of typical findings on renal ultrasound, often within the clinical context of hypertension and prenatal oligohydramnios. In rarer cases, individuals may present during childhood or adulthood with hepatosplenomegaly. Of those who survive the neonatal period, one third progress to end-stage renal disease and up to half develop chronic renal insufficiency.
The PKHD1 gene maps to 6p12 and includes 67 exons. The PKHD1 gene encodes a protein called fibrocystin, which is localized to the primary cilia and basal body of renal tubular and biliary epithelial cells. Because ARPKD is an autosomal recessive disease, affected individuals must carry 2 deleterious mutations within the PKHD1 gene. Although disease penetrance is 100%, intrafamilial variation in disease severity has been observed. Mutation detection is often difficult due to the large gene size and the prevalence of private mutations that span the entire length of the gene
"
Diagnosis of individuals suspected of having autosomal recessive polycystic kidney disease
Prenatal diagnosis if there is a high suspicion of ARPKD based on ultrasound findings
Carrier testing of individuals with a family history of ARPKD but an affected individual is not available for testing or disease-causing mutations have not been identified
Autosomal recessive polycystic kidney disease (ARPKD) is a disorder caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. The incidence of ARPKD is approximately 1:20,000 and the estimated carrier frequency in the general population is 1:70. ARPKD is characterized by enlarged echogenic kidneys, congenital hepatic fibrosis, and pulmonary hypoplasia (secondary to oligohydramnios [insufficient volume of amniotic fluid] in utero). Most individuals with ARPKD present during the neonatal period, and of those, nearly one third die of respiratory insufficiency. Early diagnosis, in addition to initiation of renal replacement therapy (dialysis or transplantation) and respiratory support, increases the 10-year survival rate significantly. Presenting symptoms include bilateral palpable flank masses in infants and subsequent observation of typical findings on renal ultrasound, often within the clinical context of hypertension and prenatal oligohydramnios. In rarer cases, individuals may present during childhood or adulthood with hepatosplenomegaly. Of those who survive the neonatal period, one third progress to end-stage renal disease and up to half develop chronic renal insufficiency.
The PKHD1 gene maps to 6p12 and includes 67 exons. The PKHD1 gene encodes a protein called fibrocystin, which is localized to the primary cilia and basal body of renal tubular and biliary epithelial cells. Because ARPKD is an autosomal recessive disease, affected individuals must carry 2 deleterious mutations within the PKHD1 gene. Although disease penetrance is 100%, intrafamilial variation in disease severity has been observed. Mutation detection is often difficult due to the large gene size and the prevalence of private mutations that span the entire length of the gene
"
