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Get the free Diagnostic Service for the Primary Hyperoxalurias

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This document provides information regarding the diagnostic services available for primary hyperoxalurias, detailing the biochemical defects, sample requirements, testing processes, and contact information
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How to fill out Diagnostic Service for the Primary Hyperoxalurias

01
Gather patient history, including symptoms and family history.
02
Order urine oxalate tests to measure oxalate levels in the urine.
03
Collect blood samples to assess kidney function and measure oxalate levels in the blood.
04
Perform genetic testing to identify specific mutations associated with primary hyperoxalurias.
05
Review imaging studies if needed (e.g., ultrasound or CT scan) to check for kidney stones.
06
Compile results and consult with a specialist in metabolic disorders for further assessment and diagnosis.

Who needs Diagnostic Service for the Primary Hyperoxalurias?

01
Individuals presenting with recurrent kidney stones.
02
Patients with a family history of primary hyperoxalurias.
03
Patients with unexplained renal failure or chronic kidney disease at a young age.
04
Individuals exhibiting symptoms like flank pain, hematuria, or nephrocalcinosis.
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Examples of the types of tests your healthcare professional may do if they suspect PH1, include: Blood or saliva (spit) test for AGXT, GRHPR, and/or HOGA1 genes. Ultrasound, CT scan, or other type of medical imaging. 24-hour collection.
Diagnosis and Tests In addition to a physical exam, medical history and diet history, typical tests used to diagnose hyperoxaluria include: tests to measure levels of oxalate and enzymes in your pee. Blood test to measure kidney function and the amount of oxalate in your blood.
These tests may include: DNA testing to look for the gene changes that cause primary hyperoxaluria. Kidney biopsy to check for buildup of oxalate. Echocardiogram, an imaging test that can check for oxalate buildup in the heart.
Common signs include: High levels of oxalate. Urinary tract infections (UTIs) Blood in your (your pee may look pink or red) Burning or pain when you pee. Kidney stones which often cause pain in the back or side. Not growing properly as a baby. Crystals found in kidney tissue (nephrocalcinosis)
Signs and symptoms Having kidney stones often. Sharp pain in your back, side, or groin area. Blood in the (pee) Frequent urinary tract infections (UTIs) Painful urination (pain when peeing) Urinary incontinence (loss of bladder control or bed-wetting) Needing to pee often. Not able to pee or peeing in small amounts.
A single kidney stone in children or recurring kidney stones in adults should cause suspicion of primary hyperoxaluria (PH). Many patients are asymptomatic for years, with 18% of people with primary hyperoxaluria type 1 being diagnosed by familial screening before they show any symptoms.
If you have large, painful kidney stones or stones that are damaging your kidneys, you may get referred to a specialist. This could include a doctor called a urologist, who treats problems in the urinary tract, or a kidney doctor, called a nephrologist.

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Diagnostic Service for the Primary Hyperoxalurias refers to medical assessments and tests conducted to identify and confirm the presence of primary hyperoxalurias, a group of inherited disorders characterized by excessive oxalate production in the body.
Typically, healthcare providers, such as physicians or specialists, who are involved in the diagnosis and management of patients with suspected primary hyperoxalurias are required to file for the Diagnostic Service.
To fill out the Diagnostic Service for the Primary Hyperoxalurias, health professionals need to complete the required forms with patient information, clinical findings, diagnostic tests performed, and clinical rationale for the tests, ensuring all sections are accurately filled.
The purpose of the Diagnostic Service for the Primary Hyperoxalurias is to accurately diagnose the condition to initiate appropriate management, provide genetic counseling for affected families, and inform potential treatment options.
The information that must be reported includes patient demographics, clinical history, laboratory test results, phenotypic characteristics, and any other relevant data that supports the diagnosis of primary hyperoxalurias.
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