Colorado Laboratory Services
300 Union Blvd. Suite 510
Lakewood, CO 80228
877.436.5066
303.987.5600
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Genetic Counseling
Genetic Counseling is the process of giving families and individuals information and support on a variety of exisiting medical conditions or conditions for which they are at risk.
Genetic evaluation involves a medical examination by a board-certified medical geneticist physician. This can include appropriate laboratory or other diagnostic testing for the family/individual, with the aim to establish a diagnosis. Genetic counseling may be a part of this process.
Providence Genetics Clinic
105 W 8th Ave. Suite 650E
Spokane,WA 99204
P: 509-474-3810
F: 509-474-3811
Pager (Dr. Martin) 509-880-2574
Clinical Medical Director: Judith A. Martin Genetic Counselors: Lael Hinds, M.S. CGC Shawnia Forrester, M.S., CGC
For a patient referral in the Inland Northest area,
please contact:
Inland Northwest Genetics Clinic
2607 Southeast Blvd., Ste. A100
Spokane, WA 99223
PHONE: (509) 535-2278
FAX: (509) 535-7502
For a patient referral in other areas, please contact your local genetics provider or click here for a list of genetics service providers in Washington State.
Genetic Services physicians can provide to patients and/or family:
Reproductive Genetic Services
Click to access the Prenatal Screening Questionnaire
When to Refer for Genetic Consultation: A Guide for Physicians
PRECONCEPTION OR PRENATAL PATIENTS
| FINDING |
REASON TO CONSIDER CONSULTATION |
| Patient age 35 or older (singleton pregnancy) |
Discuss testing options |
| Patient age 33 or older (twin pregnancy) |
Discuss testing options |
| Parents close blood relatives (consanguineous union) |
Review pedigree; establish degree of relatedness and any potential additional fetal risks and testing options pre-delivery |
| Abnormal first or 2nd trimester screen |
Discuss testing options |
| Teratogen exposure |
Discuss risks to pregnancy and testing options |
| Fetal anomaly on ultrasound |
Discuss risks to pregnancy and testing options |
| Personal or family history or pregnancy complications with known genetic association |
Discuss fetal and maternal risks, including a metabolic disorder |
| Positive carrier screen result of either member or a couple |
Discuss additional testing strategies and inheritance |
| Personal or family history of spontaneous miscarriages |
Rule out a chromosomal or syndromic diagnosis |
| Personal or family history of progressive neurologic conditions in either partner |
Discuss potential and differential diagnoses, inheritance and testing options |
| Presence of a statin-induced myopathy |
Discuss potential mitochondrial disorder, inheritance and testing options |
| Positive family history of cleft lip/palate, heart defects or spina bifida in either partner |
Discuss recurrence risks and testing options, discuss folate supplementation |
| Personal or family history of chromosome abnormality present in either partner |
Discuss risks to fetus and testing options |
| Personal or family history of significant hearing or vision loss in either partner |
Discuss risks to fetus and testing options |
| Personal or family history of mental retardation or autism in either partner |
Discuss risks to fetus and testing options |
| 1. "Indications for genetic referral: a guide for healthcare providers", Genetics in Medicine, 9(6): 385-389, June 2007. |
Learn about
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Prevention of some birth defects
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Maternal Serum Biochemical Screening
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Prenatal diagnosis testing options
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Risks based on family history information
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Adverse exposure during pregnancy
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Available fetal surgery or other in utero treatments
Pediatric Genetic Services
Click to access the Pediatric Screening Questionnaire
When to Refer for Genetic Consultation: A Guide for Physicians
PEDIATRIC PATIENTS
| FINDING |
REASON TO CONSIDER CONSULTATION |
NEONATE |
|
| Abnormal newborn screen result |
Confirm/rule out inborn error of metabolism, counsel regarding recurrence risks |
| Congenital hyper- or hypotonia |
Confirm/rule out chromosomal, metabolic or syndromic diagnosis |
| Unexplained intrauterine growth retardation |
Rule out a chromosomal or syndromic diagnosis |
NEONATE, INFANT OR CHILD |
|
| Single major of multiple major or minor anomalies |
Confirm/rule out chromosomal or syndromic diagnosis, counsel regarding possible recurrence and preventive measures in subsequent pregnancies |
| Non-familial dysmorphic features with developmental delay or mental retardation |
Confirm/rule out chromosomal or syndromic diagnosis, counsel regarding possible recurrence risks |
| Known metabolic disorder |
Diagnose inborn error of metabolism, discuss treatment/management and recurrence risks |
| Abnormal brain MRI |
Confirm/rule out chromosomal or syndromic diagnosis, counsel regarding possible recurrence risks |
| Unusual growth pattern (overgrowth, short stature or hemihypertrophy) |
Confirm/rule out a chromosomal, syndromic or metabolic diagnosis, counsel regarding possible recurrence risks |
| Connective tissue disorder including joint laxity, poor wound healing, marfanoid body habitus |
Confirm/rule out a connective tissue disorder, counsel regarding recurrence risks and patient management |
| Congenital eye defects or blindness associated with microophthalmia, cataracts, megalocornea, retinitis pigmentosa or cone-rod dystrophy |
Confirm/rule out a syndromic diagnosis, counsel regarding recurrence risks |
| Significant hearing loss not secondary to recurrent otitis media |
Confirm/rule out syndromic form of hearing loss, counsel regarding recurrence risks |
| Cardiomyopathy not secondary to viral infection |
Confirm/rule out mitochondrial or other syndromic or metabolic disorder, counsel regarding recurrence and potentially hereditary forms of cardiomyopathy |
| Six or more café au lait macules >0.5 cm in diameter |
Confirm/rule out Neurofibromatosis, counsel regarding recurrence risks and medical management and surveillance |
| Unusual skin findings such as multiple types of lesions, multiple lipomas, hypo or hyperpigmented areas, albinism |
Confirm/rule out chromosomal or syndromic diagnosis, counsel regarding recurrence |
| Born to parent carrying a known chromosome anomaly |
Confirm/rule out a syndromic diagnosis, counsel regarding recurrence risks |
| Bilateral or multifocal malignancies such as retinoblastoma or Wilms tumor |
Confirm/rule out a cancer syndrome, or other chromosomal or syndromic diagnosis, counsel regarding recurrence and medical management and surveillance |
| Clotting problems including hemophilia or Thrombophilia |
Confirm/rule out an inherited clotting disorder and certain genetic syndromes, counsel regarding recurrence and medical management |
| Recognized or suspected genetic syndrome Including chromosomal or single gene disorder |
Confirm/rule out an inherited clotting disorder and certain genetic syndromes, counsel regarding recurrence and medical management |
| Significant family history of medical or psychiatric conditions |
Confirm/rule out the suspected diagnosis, counsel regarding prognosis, medical management and recurrence risks and inheritance |
CHILD |
|
| Unexplained mental retardation or global developmental delays |
Confirm/rule out a chromosomal, syndromic or metabolic diagnosis, discuss recurrence risks, medical management, inheritance |
| Autism or pervasive developmental disorder |
Rule out a chromosomal or syndromic diagnosis, counsel regarding recurrence, inheritance, prognosis |
| Unusual behavior accompanied by minor malformations and developmental delay |
Rule out a chromosomal or syndromic diagnosis, counsel regarding recurrence, inheritance and prognosis |
| Immunodeficiency |
Confirm/rule out a syndromic diagnosis or genetic form of immunodeficiency, counsel regarding recurrence risks, medical management |
| Progressive muscle weakness |
Confirm/rule out suspected syndromic diagnosis, discuss inheritance, recurrence risks and medical management |
| Neurologic condition such as peripheral neuropathy, myopathy, progressive ataxia or other progressive neurologic disorder without a clear non-genetic cause |
Confirm/rule out a genetic diagnosis, counsel regarding inheritance, recurrence risks and medical management |
| 1. "Indications for genetic referral: a guide for healthcare providers", Genetics in Medicine, 9(6): 385-389, June 2007. |
Learn About
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Possible causes for a child's physical differences, developmental delay or behavioral issues
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Available diagnostic testing
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Recurrence risks to members of the family
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Medical management for the condition identified within the family/individual
Adult Genetic Services
Click to access the Adult Family History Form
When to Refer for Genetic Consultation: A Guide for Physicians
ADULT PATIENTS
| FINDING |
REASON TO CONSIDER CONSULTATION |
| Abnormal sexual maturation or delayed puberty |
Rule out sex-reversal condition or chromosome abnormality |
| Recurrent pregnancy loss (>2) |
Rule out a chromosome abnormality |
| Short or tall stature for family background |
Rule out skeletal dysplasia, chromosome abnormality or syndromic condition |
| Six or more café au lait spots >1.5 cm |
Rule out neurofibromatosis type 1 |
| Statin-induced myopathy |
Rule out a mitochondrial disorder |
| Personal and/or family history of breast, colon, ovarian cancer with young onset age, familial clustering of cases, and/or bilateral lesions |
Discuss testing options and strategies, surveillance, treatment, and inheritance |
| Cardiovascular issues known to be associated with genetics factors (long QT,hyperlipidemia) |
Discuss testing options and strategies, surveillance, treatment, and inheritance |
| Connective tissue disorder |
Rule out a syndromic diagnosis, discuss surveillance, treatment, and inheritance |
| Hematologic condition with excessive bleeding or clotting |
Confirm or rule out genetic condition, discuss treatment, testing options, inheritance |
| Progressive neurologic condition, including unexplained neuropathy, progressive ataxia, early onset dementia |
Confirm or rule out diagnosis, discuss surveillance, treatment, testing options and inheritance |
| Visual loss due to retinitis pigmentosa, early-onset macular degeneration, cataracts |
Rule out syndromic diagnosis, discuss testing options and inheritance |
| Early onset hearing loss |
Rule out a syndromic or non-syndromic diagnosis, discuss surveillance, testing options and inheritance |
| Recognized chromosomal or single gene disorder |
Confirm diagnosis, discuss prognosis, medical management and inheritance |
| Family history of sudden, unexplained death at a young age |
Rule out genetic conditions with this history, ie. Long QT, Marfan and other cardiac conditions |
| 1. "Indications for genetic referral: a guide for healthcare providers", Genetics in Medicine, 9(6): 385-389, June 2007. |
Learn About
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Available diagnostic or pre-testing
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Medical management issues with the condition of adulthood
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Genetic factors known in adult chronic disease and risks to other family members for the condition
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Risk for a particular condition based on medical examination and family history
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Risk reduction strategies
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