Blood Spot Disorders: Other Disorders

CFTR-related metabolic syndrome

FINDING
The enzyme immunoreactive trypsinogen (IRT) is at an elevated level and up to two CFTR variants are identified.

OTHER ASSOCIATED DISORDERS
Cystic fibrosis (CF)

CAUSE
Changes called variants in both copies of the CFTR gene are causing the genes to not work correctly; most likely one or both of the variants are of varying clinical significance.

EARLY SIGNS
People with CRMS have less severe cystic fibrosis symptoms, but many never have any symptoms.

TREATMENT
Not needed unless symptoms develop.

DISORDER GROUP
Other blood spot disorders

SCREENING METHOD
Two site fluoroimmunometric assay
2nd tier: molecular assay for 39 common variants

FACT SHEETS
For Family – borderline result: CF (PDF)
For Provider – borderline result: CF (PDF)
For Family – positive result: CF (PDF)
For Provider – positive result: CF (PDF)

SPECIALIST CONTACT LIST
Cystic Fibrosis Centers (PDF)

Congenital Cytomegalovirus (cCMV)

FINDING
The DNA of a virus, cytomegalovirus (CMV), was detected.

OTHER ASSOCIATED DISORDERS
None

CAUSE
CMV is a common virus that causes cold-like symptoms in children and adults. The virus can infect a baby before it is born causing the baby to be infected at birth.

EARLY SIGNS
Most newborns show no signs of cCMV disease. Some newborns have hearing loss, jaundice, a rash, a small head, or weak muscles.

TREATMENT
Most infants with congenital CMV will not need treatment. As some infants may develop hearing loss as they get older, it is recommend that all infants diagnosed with congenital CMV have regular audiology exams during early childhood. Regular monitoring may identify new signs and symptoms earlier, allowing for care and/or intervention that may be helpful.

Some infants with specific symptoms of congenital CMV may be eligible to receive antiviral medicine. It is important to discuss the risk and benefits of antiviral therapy with a pediatric infectious disease specialist.

DISORDER GROUP
Other blood spot disorders

SCREENING METHOD
Real-time quantitative polymerase chain reaction (qPCR

FACT SHEETS
For Family - Positive result: cCMV (PDF)
For Provider - Positive result: cCMV (PDF)
For Provider - Steps for cCMV follow-up (PDF)

SPECIALIST CONTACT LIST
Pediatric infectious disease specialist contact list (PDF)

Cystic fibrosis (CF)

FINDING
The enzyme immunoreactive trypsinogen (IRT) is at an elevated level and up to two CFTR variants are identified.

OTHER ASSOCIATED DISORDERS
CFTR-related metabolic syndrome (CRMS)

CAUSE
Changes called variants in both copies of the CFTR gene are causing the genes to not work correctly; most likely both are CF-causing.

EARLY SIGNS
CF causes thick, sticky mucus to build up, leading to health problems. If untreated, it can cause poor weight gain, greasy or oily bowel movements, poor growth, coughing and wheezing, and lung infections.

TREATMENT
Consists of antibiotics and enzymes.

DISORDER GROUP
Other blood spot disorders

SCREENING METHOD
Two site fluoroimmunometric assay 
2nd tier: molecular assay for 39 common variants

FACT SHEETS
For Family - Borderline result: CF (PDF)
For Provider - Borderline result: CF (PDF)
For Family - Positive result: CF (1 variant) (PDF)
For Provider - Positive result: CF (1 variant) (PDF)
For Family - Positive result: CF (2 variants) (PDF)
For Provider - Positive result: CF (2 variants) (PDF)
For Family - Positive result: CF (sig IRT & 1 variant) (PDF)
For Provider - Positive result: CF (sig IRT & 1 variant) (PDF)

SPECIALIST CONTACT LIST
Cystic Fibrosis Centers (PDF)

Severe combined immunodeficiency (SCID)

FINDING
The small circles of DNA created in T-cells, T-cell receptor excision circles, are either at low levels or absent.

OTHER ASSOCIATED DISORDERS
T-cell lymphopenia

CAUSE
There are not enough of specific types of white blood cells called T-cells and B-cells, which are needed for protection from infection and illness.

EARLY SIGNS
Children with SCID develop many infections that take a long time to go away even with treatment. If untreated, these infections can become serious and life-threatening.

TREATMENT
Consists of protection from infection and illness. Some children will be placed on immunoglobulin replacement therapy. SCID can be cured by a successful bone marrow transplant that is best performed within the first few months of life.

DISORDER GROUP
Other blood spot disorders (primary immunodeficiency)

SCREENING METHOD
Real-time quantitative polymerase chain reaction (qPCR)

FACT SHEETS
For Family - Positive result: SCID (PDF)
For Provider - Positive result: SCID (PDF)

SPECIALIST CONTACT LIST
Immunology/infectious disease specialist contact list (PDF)

Spinal muscular atrophy (SMA)

FINDING
Both copies of the SMN1 gene are absent.

OTHER ASSOCIATED DISORDERS
None

CAUSE
The nerve cells that control the muscles are not working correctly.

EARLY SIGNS
There are four types of SMA. The most common and severe form begins in the newborn period. Symptoms include swallowing and feeding difficulties, breathing difficulties, muscle weakness, and delayed motor milestones. If untreated, children get weaker over time and have shortened lifespans.

TREATMENT
Consists of drug therapy and gene therapy. Since these treatments are only recently approved for use, long-term outcomes are not known.

DISORDER GROUP
Other blood spot disorders (neuromuscular)

SCREENING METHOD
Real-time quantitative polymerase chain reaction (qPCR)

FACT SHEETS
For Family - Positive result: SMA (PDF)
For Provider - Positive result: SMA (PDF)

SPECIALIST CONTACT LIST
Neurology specialist contact list (PDF)

T-cell lymphopenia

FINDING
The small circles of DNA created in T-cells, T-cell receptor excision circles, are at low levels.

OTHER ASSOCIATED DISORDERS
Severe combined immunodeficiency (SCID)

CAUSE
There are not enough of a specific type of white blood cells called T-cells for protection from infection and illness. T-cell lymphopenia can be caused by birth defects like heart defects or can be a symptom of a condition like Down syndrome. Sometimes the cause of T-cell lymphopenia cannot be found.

EARLY SIGNS
Children with T-cell lymphopenia can develop many infections that take a long time to go away even with treatment. If untreated, these infections can become serious and life-threatening.

TREATMENT
Consists of protection from infection and illness. Some children with more severe lymphopenia will be placed on immunoglobulin replacement therapy. Bone marrow or thymus transplants may be needed for severe lymphopenia.

DISORDER GROUP
Other blood spot disorders

SCREENING METHOD
Real-time quantitative polymerase chain reaction (qPCR)

FACT SHEETS
For Family - Positive result: TCL (PDF)
For Provider - Positive result: TCL (PDF)

SPECIALIST CONTACT LIST
Immunology/infectious disease specialist contact list (PDF)