Diagnostic tests and procedures for 22q11.2 deletion syndrome include blood tests like array comparative genomic hybridization and X-rays to produce detailed images of bones, internal tissues, and organs on films using invisible electromagnetic energy beams.
Diagnostic Tests and Procedures for 22q11.2 Deletion Syndrome
New York (USA), June 16, 2013
Diagnostic Tests and Procedures
22q11.2 deletion syndrome has various characteristics. If diagnosis is early, rather soon after birth, tests and treatment starts even before your child leaves hospital. Doctor advises you on regular scheduled checkups for your child at every stage. Often, the symptoms of 22q11.2 deletion syndrome are not recognized and may remain undiagnosed.
Simple tests include:
1. Blood tests like array comparative genomic hybridization.
2. Tests to detect immune system problems.
3. X-rays to produce detailed images of bones, internal tissues, and organs on films using invisible electromagnetic energy beams.
4. Echocardiography test to assess heart structure and functioning. This test uses sound waves to picture functioning of heart and heart valves and records all details on an electronic sensor.
5. FISH – This is Fluorescent in situ hybridization or FISH. This test is specifically designed to detect small groups of deleted genes. This test is normally done after identification of glaring symptoms of 22q11.2 deletion syndrome. However, if FISH test does not detect any deletion in 22nd chromosome, a complete study of entire body chromosome structure is done to detect defects in any other chromosome. Further, this test is also done on both parents to detect if 22q11.2 deletion syndrome has been inherited or not. It can be passed even by any one parent. Yet, if both parents do not suffer from this syndrome, the child could still suffer from 22q11.2 deletion syndrome.
Since this syndrome affects a myriad range of organs, specialist doctors include geneticist, pediatrician, psychologist, endocrinologist, immunologist, cardiologist, infectious disease specialist, speech and occupational therapist, and others.
Sometimes diagnosis is not easy as 22q11.2 deletion syndrome occurs in combination with other conditions. These include:
1. CHARGE association responsible for developmental delay, growth deficiency, cardiovascular defects, cranial nerve abnormalities, cleft palate, and renal anomalies.
2. Autosomal dominant Opitz GBBB syndrome causing cleft palate, developmental delay, vascular ring and cardiovascular defects.
3. Kabuki syndrome causing growth deficiency, developmental delay, cleft palate, renal abnormalities, and cardiovascular defects.
4. Hypocalcemic seizures from epilepsy.
The diagnosis and treatment procedures are different in such cases.
22q11.2 Deletion Syndrome – Definition and Diagnosis
Definition and Diagnosis of 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Causes and Evaluation
Causes and Evaluation of 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Signs and Symptoms
Signs and Symptoms of 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Complications and Risk Factors
Complications and Risk Factors for 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Treatments and Medications
Treatments and Medications for 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Clinical Trials and Research Studies
Clinical Trials and Medical Research Studies on 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Home Remedies and Alternative Therapies
Home Remedies and Alternative Therapies for 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Prevention and Coping
Prevention and Coping with 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Lifestyle Changes and Self-Help
Lifestyle Changes and Self-Help for 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Prevention, Treatment, and Remedies
22q11.2 Deletion Syndrome – Causes, Symptoms, Diagnosis, Prevention, Treatment, and Remedies