Alkaptonuria(HGD) gene analysis

Alkaptonuria (HGD) Gene Analysis

Overview
Alkaptonuria (AKU) is a rare inherited metabolic disorder caused by mutations in the HGD (Homogentisate 1,2-Dioxygenase) gene. These mutations reduce or eliminate the activity of the HGD enzyme, leading to the accumulation of homogentisic acid (HGA) in the body. Excess HGA can cause dark-colored urine, pigmentation of connective tissues (ochronosis), joint damage, and other long-term complications.

What is HGD Gene Analysis?

HGD Gene Analysis is a molecular genetic test that detects disease-causing variants in the HGD gene to confirm or rule out Alkaptonuria.

Who Should Consider This Test?

• Individuals with dark urine since infancy or childhood
• People with suspected Alkaptonuria symptoms
• Patients with unexplained early-onset arthritis or ochronosis
• Family members of affected individuals
• Couples with a family history of Alkaptonuria seeking carrier screening

Symptoms of Alkaptonuria

• Urine that darkens on standing
• Bluish-black pigmentation of ears, eyes, and skin
• Joint pain and stiffness
• Early degenerative arthritis
• Kidney or prostate stones
• Heart valve calcification in later life

Benefits of the Test

• Confirms the genetic cause of Alkaptonuria
• Supports accurate diagnosis and clinical management
• Identifies carriers within families
• Enables genetic counseling and family planning
• Assists in early monitoring to reduce complications

Sample Required

• Peripheral Blood (EDTA)

Method

• Next-Generation Sequencing (NGS) with confirmatory analysis when required

Ideal For

• Children and adults with suspected Alkaptonuria
• Individuals with elevated homogentisic acid levels
• Families with known HGD gene mutations

Why Choose This Test?

Early genetic diagnosis helps guide medical care, monitor disease progression, identify at-risk family members, and support informed reproductive decisions.

Note: This test should be interpreted alongside clinical findings, biochemical investigations, and genetic counseling for comprehensive diagnosis and management.