Patient Information

The Genetics Service:

 

Pediatric patients with known genetic syndromes are examined and treated by physicians who are board certified in medical genetics. They include:

• Suspected genetic syndrome or chromosome anomaly
• Neurofibromatosis
• William syndrome
• Smith-Lemli-Opitz syndrome
• Marfan syndrome
• Chromosome abnormalities (such as Down, Turner, and Klinefelter syndromes)
• Unusual physical findings
• Isolated or multiple congenital anomalies
• Pre- or post-natal growth retardation
• Developmental delay/mental retardation

In addition, genetic physicians provide consultation to adults or children for a variety of reasons including:

• Personal or family history of cancer
• Family history of an inherited disorder or suspected genetic syndrome
• Biochemical or DNA testing to confirm a specific diagnosis or carrier status
• Recurrent miscarriage
• Discussion following the identification of a fetus with structural abnormalities or a genetic disorder
• Preimplantation and preconception genetic counseling
• Ashkenazi Jewish or other ethnic-specific genetic counseling

Prenatal genetic counseling is also available to women for:

• Advanced maternal age
• Abnormal serum screening or prenatal testing
• History of a previous child with a metabolic or chromosomal defect.

The staff coordinates the visit with a level II ultrasound and amniocentesis (performed by a physician in the Department of Obstetrics and Gynecology).

  

The Metabolism Service

 

The Metabolism Service provides diagnostic and management services (inpatient and outpatient) for children and adolescents with inborn errors of metabolism including: 

• Amino or organic acid disorders
• Urea cycle disorders
• Fatty acid oxidation defects
• Peroxisomal diseases
• Galactosemia and carbohydrate metabolism disorders (except diabetes mellitis)
• Mitochondrial energy disorders

Appropriate referrals to the Metabolism Service include patients identified through the newborn screening program or those with:

• Unexplained vomiting and/or lethargy
• Unexplained metabolic acidosis, hyperammonemia, and/or hypoglycemia
• Non-syndromic multi-system disease, especially involving the brain, liver, heart, kidney and muscle
• Neurodevelopmental symptoms, especially when there is a loss of milestones or progression of symptoms
• A family history of sudden infant death, Reye syndrome, undiagnosed mental retardation or non-syndromic multi-system disease

On-site Laboratories: Cytogenetic and Biochemical

 

The Cytogenetics laboratory at Tufts Medical Center is fully equipped to perform karyotypes, FISH and other specialty procedures on multiple tissue types including blood, amniocytes, bone marrow, skin, products of conception and tumor specimens.

 

In addition, the capability to detect biochemical disorders and to manage them is enhanced by the presence of an on-site Metabolic laboratory; available testing includes amino acid testing in blood, urine, and CSF, carnitine measurement, and analysis of organic acids. Various other tests such as alpha-1-antitrypsin Pi-typing are also available. Sweat analyses are carried out for patients suspected of having cystic fibrosis.

 

Family Center for Genetic Medicine

 

The Family Center for Genetic Medicine is a novel approach to preventive family medicine. As genetic factors underlying many diseases become better understood, the best patient care will be managed across medical specialties. Individualized analysis of a patient's genetic make-up will serve two functions:

• Provide critical information about the individual's health risks
• Alert other family members to the possibility of genetic disease 

The Family Center for Genetic Medicine will bridge the medical specialties offered in our pediatric and adult hospitals. This pioneering model will provide coordination and continuity of care for all family members -- pre-conception, prenatal, newborn, child, adolescent, and adult -- and provide many families with new hope for proactively managing inherited diseases through pioneering research, genetic counseling and diagnostic testing, coordinated medical intervention, follow-up screenings, and lifestyle adjustments.