Association for Creatine Deficiencies Applauds Quest Diagnostics Laboratory's Addition of Creatine Disorders Panel

CARLSBAD, Calif., November 9, 2017 (Newswire.com) - Association for Creatine Deficiencies is pleased to announce that Quest Diagnostics, one of the leading biochemical laboratories in the United States, has added “Creatine Biosynthesis Disorders Panel” to their offered testings. Kim Tuminello, Director of Advocacy for the Association for Creatine Deficiencies commented, “It’s often difficult for physicians to order this test for their patients. Many labs do not offer a Creatine Disorder Panel. We are excited to see that Quest Diagnostics is making the diagnosis of Cerebral Creatine Deficiency Syndromes (CCDS) easier through the addition of this test.”

Because CCDS mimic symptoms of other medical conditions, patients are often first diagnosed with autism, cerebral palsy, epilepsy, and other disorders. Proper diagnosis and early intervention are critical to establishing the care needed to improve life quality and longevity for the CCDS patient. Rubén Bonilla-Guerrero, M.D., FACMG, FACB, CGMBS, Medical Director, Medical Affairs and Genetics for Quest Diagnostics, stated, “We are happy to offer this resource to find the correct diagnosis for the children affected by these disorders. For GAMT and AGAT patients, it means the proper treatment can begin. And for CTD patients, families can join the ACD in the search for continued research into treatments and a cure.”

It's often difficult for physicians to order this test for their patients. Many labs do not offer a Creatine Disorder Panel. We are excited to see that Quest Diagnostics is making the diagnosis of Cerebral Creatine Deficiency Syndromes (CCDS) easier through the addition of this test.

Kim Tuminello, Director of Advocacy

About ACD: The Association for Creatine Deficiencies’ mission is to eliminate the challenges of CCDS. ACD is committed to providing patient, family, and public education to advocate for early intervention through newborn screening, and to promote and fund medical research for treatments and cures for Cerebral Creatine Deficiency Syndromes. For more information regarding ACD, please visit http://www.creatineinfo.org.

Source: Association for Creatine Deficiencies